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Cleft Lip (cleft + lip)
Kinds of Cleft Lip Terms modified by Cleft Lip Selected AbstractsStudy of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate,,HUMAN MUTATION, Issue 3 2006Marcella Martinelli Abstract Cleft lip with or without cleft palate (CL/P) is the most common inborn craniofacial anomaly. Affected individuals require extensive medical and psychosocial support. Although CL/P has a complex and poorly understood etiology, increasing evidence of folate pathway involvement has been collected. So far, only the MTHFR gene has been extensively investigated as a risk factor for CL/P, while little has been done to test genetic variations in the folate biosynthetic pathways that may influence the infant's susceptibility to these birth defects. To date, this paper presents the first attempt to verify the involvement of four genes belonging to the folate pathway in nonsyndromic cleft onset. We used a case-parent triad design to test for linkage disequilibrium in the case of seven SNPs mapping on four different genes: transcobalamin 1 and 2 (TCN1 and TCN2), methionine synthase (MTR), and MTR reductase (MTRR). Our finding suggests that TCN2 is involved in causing CL/P. Indeed, significant overtransmission of the C allele was observed at the polymorphism c.776C>G (p.Pro259Arg) to the affected offspring (P=0.01). Results obtained with additional TCN2 polymorphisms suggest that c.776C>G may be functionally related to CL/P. However, because conflicting data exist with regard to the effect of the polymorphism in transcobalamin 2 function or in perturbing plasma levels of key molecules in the folate pathway, further investigation is warranted to confirm our data. © 2006 Wiley-Liss, Inc. [source] Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese populationORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 3 2002K Neiswanger Structured Abstract Authors , Neiswanger K, Cooper ME, Weinberg SM, Flodman P, Bundens Keglovits A, Liu Y, Hu D-N, Melnick M, Spence MA, Marazita ML Objective , To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Design , Case , control study with two control groups (genetically related and unrelated). Setting and Sample Population , A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Methods , Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. Results , In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. Conclusion , These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting. [source] Comparative morphometrics of embryonic facial morphogenesis: Implications for cleft-lip etiologyTHE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 1 2007Nathan M. Young Abstract Cleft lip (CL) with or without cleft palate (CL[P]) has a complex etiology but is thought to be due to either genetic or environmentally induced disruptions of developmental processes affecting the shape and size of the facial prominences (medial nasal, lateral nasal, and maxilla). Recent advances in landmark-based morphometrics enable a rigorous reanalysis of phenotypic shape variation associated with facial clefting. Here we use geometric morphometric (GM) tools to characterize embryonic shape variation in the midface and head of six strains of mice that are both cleft-liable (A, A/WySn, CL/Fr) and normal (BALB/cBy, C57BL, CD1). Data were comprised of two-dimensional landmarks taken from frontal and lateral photographs of embryos spanning the time period in which the facial prominences fuse (GD10-12). Results indicate that A/- strain mice, and particularly A/WySn, have overall smaller midfaces compared to other strains. The A/WySn strain also has significant differences in facial shape related to retarded development. Overall, CL/Fr strain mice are normal-sized, but tend to have undersized maxillary prominences that do not project anteriorly and have a small nasal contact area. These results suggest that the etiology of clefting differs in A/WySn and CL/Fr strains, with the former strain suffering disruptions to developmental processes affecting overall size (e.g., neural crest migration deficiencies and lower mitotic activity), while the latter strain has defects restricted to the shape and size of the maxilla. A combination of molecular experimentation and phenotypic analysis of shape is required to test these hypotheses further. Anat Rec, 290:123,139, 2007. © 2006 Wiley-Liss, Inc. [source] Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial cleftsEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 4 2010Adrianna Mostowska Mostowska A, Hozyasz KK, Biedziak B, Misiak J, Jagodzinski PP. Polymorphisms located in the region containingBHMTandBHMT2genes as maternal protective factors for orofacial clefts. Eur J Oral Sci 2010; 118: 325,332. © 2010 The Authors. Journal compilation © 2010 Eur J Oral Sci Nonsyndromic cleft lip with or without cleft palate (NCL/P) is one of the most common craniofacial malformations; however, its aetiology is still unclear. Because the effects of maternal nutrition on fetal development are well known, we decided to pursue the question of whether polymorphic variants of genes encoding enzymes involved in choline metabolism might be associated with the maternal risk of having a baby with NCL/P. Analysis of 18 single nucleotide polymorphisms (SNPs) of betaine-homocysteine methyltransferase (BHMT), betaine-homocysteine methyltransferase-2 (BHMT2), choline dehydrogenase (CHDH), choline kinase (CHKA), dimethylglycine dehydrogenase (DMGDH), choline-phosphate cytidylyltransferase A (PCYT1A), and phosphatidylethanolamine N -methyltransferase (PEMT) provided evidence that polymorphisms located in the region containing BHMT and BHMT2 were protective factors against NCL/P affected pregnancies in our population. The strongest signal was found for the SNP located in the intronic sequence of BHMT2. Women carrying two copies of the rs625879 T allele had a significantly decreased risk of having offspring with orofacial clefts. These results were significant, even after correction for multiple comparisons. Moreover, the gene,gene interaction analysis revealed a significant epistatic interaction of BHMT2 (rs673752), PEMT (rs12325817), and PCYT1A (rs712012) with maternal NCL/P susceptibility. Altogether, our study identified a novel gene, the nucleotide variants of which were be associated with a decreased risk of having a baby with NCL/P. [source] Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association studyEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 6 2008Luca Scapoli Clefts of the orofacial region are among the most common congenital defects, caused by abnormal facial development during gestation. Non-syndromic cleft lip with or without cleft palate (NSCLP) is a complex trait most probably caused by multiple interacting loci, with possible additional environmental factors. As facial clefts form part of more than 300 syndromes, one strategy for identifying the genetic causes of NSCLP could be to study candidate genes responsible for clefting syndromes. Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome. A linkage disequilibrium investigation was performed with intragenic single nucleotide polymorphisms on each of these genes in a sample study of 239 patients/parents trios. Evidence which suggests that JAG2 and MID1 may play a role in NSCLP was obtained. [source] Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populationsGENETIC EPIDEMIOLOGY, Issue 6 2008Jae Woong Sull Abstract Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence around 1 in 700 live births. The Runt-related transcription factor 2 (RUNX2) gene has been suggested as a candidate gene for CL/P based largely on mouse models; however, no human studies have focused on RUNX2 as a risk factor for CL/P. This study examines the association between markers in RUNX2 and isolated, nonsyndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Case-parent trios from four populations (77 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 24 single nucleotide polymorphisms (SNPs) in the RUNX2 gene. We performed the transmission disequilibrium test on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test and the parent-of-origin likelihood ratio test (PO-LRT). When all trios were combined, the transmission asymmetry test revealed a block of 11 SNPs showing excess maternal transmission significant at the P<0.01 level, plus one SNP (rs1934328) showing excess paternal transmission (P=0.002). For the 11 SNPs showing excess maternal transmission, odds ratios of being transmitted to the case from the mother ranged between 3.00 and 4.00. The parent-of-origin likelihood ratio tests for equality of maternal and paternal transmission were significant for three individual SNPs (rs910586, rs2819861, and rs1934328). Thus, RUNX2 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission. Genet. Epidemiol. 2008. © 2008 Wiley-Liss, Inc. [source] Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in NorwayGENETIC EPIDEMIOLOGY, Issue 5 2008Astanand Jugessur Abstract Mutations in the gene encoding interferon regulatory factor 6 (IRF6) underlie a common form of syndromic clefting known as Van der Woude syndrome. Lip pits and missing teeth are the only additional features distinguishing the syndrome from isolated clefts. Van der Woude syndrome, therefore, provides an excellent model for studying the isolated forms of clefting. From a population-based case-control study of facial clefts in Norway (1996,2001), we selected 377 cleft lip with or without cleft palate (CL/P), 196 cleft palate only (CPO), and 763 control infant-parent triads for analysis. We genotyped six single nucleotide polymorphisms within the IRF6 locus and estimated the relative risks (RR) conferred on the child by alleles and haplotypes of the child and of the mother. On the whole, there were strong statistical associations with CL/P but not CPO in our data. In single-marker analyses, mothers with a double-dose of the ,a'-allele at rs4844880 had an increased risk of having a child with CL/P (RR=1.85, 95% confidence interval: 1.04,3.25; P=0.036). An RR of 0.38 (95% confidence interval: 0.16,0.92; P=0.031) was obtained when the child carried a single-dose of the ,a'-allele at rs2235371 (the p.V274I polymorphism). The P -value for the overall test was <0.001. In haplotype analyses, several of the fetal and maternal haplotype relative risks were statistically significant individually but were not strong enough to show up on the overall test (P=0.113). Taken together, these findings further support a role for IRF6 variants in clefting of the lip and provide specific risk estimates in a Norwegian population. Genet. Epidemiol. 2008. © 2008 Wiley-Liss, Inc. [source] Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate,,HUMAN MUTATION, Issue 3 2006Marcella Martinelli Abstract Cleft lip with or without cleft palate (CL/P) is the most common inborn craniofacial anomaly. Affected individuals require extensive medical and psychosocial support. Although CL/P has a complex and poorly understood etiology, increasing evidence of folate pathway involvement has been collected. So far, only the MTHFR gene has been extensively investigated as a risk factor for CL/P, while little has been done to test genetic variations in the folate biosynthetic pathways that may influence the infant's susceptibility to these birth defects. To date, this paper presents the first attempt to verify the involvement of four genes belonging to the folate pathway in nonsyndromic cleft onset. We used a case-parent triad design to test for linkage disequilibrium in the case of seven SNPs mapping on four different genes: transcobalamin 1 and 2 (TCN1 and TCN2), methionine synthase (MTR), and MTR reductase (MTRR). Our finding suggests that TCN2 is involved in causing CL/P. Indeed, significant overtransmission of the C allele was observed at the polymorphism c.776C>G (p.Pro259Arg) to the affected offspring (P=0.01). Results obtained with additional TCN2 polymorphisms suggest that c.776C>G may be functionally related to CL/P. However, because conflicting data exist with regard to the effect of the polymorphism in transcobalamin 2 function or in perturbing plasma levels of key molecules in the folate pathway, further investigation is warranted to confirm our data. © 2006 Wiley-Liss, Inc. [source] Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate,,HUMAN MUTATION, Issue 1 2004F. Pezzetti Abstract The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring. © 2004 Wiley-Liss, Inc. [source] The effects of early relational antecedents and other factors on the parental sensitivity of mothers and fathersINFANT AND CHILD DEVELOPMENT, Issue 1 2003Diane Pelchat Abstract This study examines the effect of early relational antecedents (ERA, i.e. the quality of parenting parents recalled receiving as children), parenting stress, marital stress, socio-economic factors and children's characteristics (gender and disability condition) on the parental sensitivity of mothers and fathers. The sample consisted of 116 mothers and 84 fathers of 117 eighteen month old children drawn from a larger longitudinal study on the adaptation of parents to a child with a disability. Thirty-four children were diagnosed with Down syndrome (DS), 51 with a cleft lip and/or palate (CLP), and 32 were non-disabled children. Multiple regression analyses reveal that mothers' sensitivity is best predicted by her level of education and family income, whereas fathers' sensitivity is best predicted by their ERA, marital stress, family income and the child's disability condition. Mothers with more education and a greater family income displayed a greater sensitivity to their children, as did fathers who perceive less marital stress, those with a greater family income and those who perceived their parents as less controlling. Also, fathers of children with DS displayed less sensitivity for their children than fathers of children with CLP or fathers of non-disabled children. These results concord with many studies about the importance of socio-economic factors, ERA, marital stress, parent's gender and children's factors in the understanding of parental sensitivity. Copyright © 2003 John Wiley & Sons, Ltd. [source] Periodontal attachment loss over 14 years in cleft lip, alveolus and palate (CLAP, CL, CP) subjects not enrolled in a supportive periodontal therapy programJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 9 2003Giovanni E. Salvi Abstract Objectives: (i) To assess the overall and (ii) cleft-associated rate of periodontal disease (PD) progression in subjects with cleft lip, alveolus and palate (CLAP) and (iii) to compare these rates with those of subjects with cleft lip (CL) and cleft palate (CP). Material and methods: Twenty-six subjects not enrolled in a supportive periodontal therapy (SPT) program were examined in 1979, 1987 and 1993. PD progression was assessed as increase in pocket probing depth (PPD in mm) and probing attachment loss (PAL in mm). Results: Extensive plaque accumulation and high frequencies of gingival units bleeding on probing were observed at all three examinations. A statistically significant increase in mean PPD of 0.57±0.21 mm (SD) in both groups as well as a statistically significant loss of PAL of 1.85±0.23 mm (SD) in the CLAP group and of 1.72±0.21 mm (SD) in the CL/CP group occurred over the observation period (p<0.05). In subjects with CLAP, statistically significant increases in PPD and loss of PAL were recorded over time at sites adjacent to the cleft as well as at control sites (p<0.05). Over 14 years, however, PPD increased 1.72±1.08 mm (SD) at cleft sites versus 0.72±1.14 mm (SD) at control sites (p<0.05), and PAL amounted to 3.19±1.35 mm (SD) at cleft sites versus 2.41±1.52 mm (SD) at control sites (p<0.05). Conclusion: Both the CLAP and the CL/CP subjects are at high risk for PD progression if no SPT program is provided. This also suggests that alveolar cleft sites in subjects with high plaque and gingival inflammation scores underwent more periodontal tissue destruction than control sites over a 14-year period. Zusammenfassung Ziele: 1. Beurteilung der gesamten und 2. der mit der Spalte assoziierten Progressionsrate der Parodontalerkrankung (PD) bei Patienten mit Lippen-Kiefer-Gaumenspalten (CLAP) und 3. der Vergleich dieser Progressionsraten mit denen von Patienten mit Lippenspalten (CL) sowie Gaumenspalten (CP). Material und Methoden: 26 Patienten, die nicht an einem SPT-Programm teilnahmen wurden in 1979, 1987 und 1993 untersucht. Die PD-Progression wurde über die Zunahme der Sondierungstiefe (PPD in mm) und den klinischen Attachmentverlust (PAL in mm) beurteilt. Ergebnisse: Bei allen drei Untersuchungszeitpunkten wurde eine ausgedehnte Plaqueakkumulation und eine große Häufigkeit von Gingivabereichen, die bei Sondierung bluteten beobachtet. Während der Beobachtungsperiode fand in beiden Gruppen ein statistisch signifikanter Anstieg der mittleren PPD von 0.57±0.21 mm (SD) als auch ein statistisch signifikanter Attachmentverlust von 1.85±0.23 mm (SD) in der CLAP-Gruppe sowie von 1.72±0.21 mm (SD) in der CL/CP-Gruppe statt (p<0.05). Bei den Patienten mit CLAP wurde im Laufe der Zeit sowohl an den Parodontien neben der Spalte als auch an den Kontrollstellen (p<0.05) ein statistisch signifikanter Anstieg der PPD und Attachmentverlust registriert. Während der 14 Jahre jedoch nahm die PPD an Stellen mit Spalte um 1.72±1.08 mm (SD) zu im Gegensatz zu den Kontrollstellen (p<0.05) wo dieser Wert 0.72±1.14 mm (SD) betrug. Für den Attachmentverlust lag dieser Wert bei 3.19±1.35 mm (SD) an den Stellen mit Spalte im Gegensatz zu den Kontrollstellen (p<0.05) mit 2.41±1.52 mm (SD). Schlussfolgerung: Wenn keine parodontale Erhaltungstherapie zur Verfügung gestellt wird haben beide Personen, die mit CLAP und die mit CL/CP ein hohes Risiko hinsichtlich der Parodontitisprogression. Dies läßt annehmen, dass bei Personen mit viel Plaque und ausgeprägter Entzündung der Gingiva, die Stellen mit Kieferspalten während einer 14-jährigen Zeitperiode eine stärkere Zerstörung der parodontalen Gewebe erfahren als die Kontrollstellen. Résumé Les buts de cette étude ont été de suivre la progression du taux de la maladie parodontale associée au bec de lièvre (CLAP) et de comparer ces taux avec ceux de sujets ayant lèvre fendue (CL) et palais fendu (CP). Vingt-six sujets non-soumis à un programme parodontal de maintien (SPT) ont été examinés en 1979, 1987 et 1993. La progression PD a été enregistrée telle une augmentation de la profondeur au sondage (PPD en mm) et une perte d'attache au sondage (PAL en mm). Une énorme accumulation de plaque dentaire et de très hautes fréquences dans les nombres d'unités gingivales avec saignement au sondage ont été observées lors des trois examens. Une augmentation statistiquement significative dans la moyenne PPD de 0.57±0.21 mm (SD) dans les deux groupes ainsi qu'une perte significative de PAL de 1.85±0.23 mm (SD) dans le groupe CLAP et de 1.72±0.21 mm (SD) dans le groupe CL/CP apparaîssaient durant cette période d'observation (p<0.05). Chez les sujets avec CLAP, les augmentations statistiquement significatives de PPD et la perte de PAL ont été enregistrées avec le temps sur les sites adjacents au bec de lièvre ainsi qu'au niveau des sites contrôles (p<0.05). Sur les quatorze années, cependant, PPD augmentait de 1.72±1.08 mm (SD) au niveau des sites bec de lièvre vs 0.72±1.14 mm (SD) au niveau des contrôles (p<0.05), et PAL s'élevait à 3.19±1.35 mm (SD) au niveau des sites bec de lièvre vs 2.41±1.52 mm au niveau des contrôles (p<0.05). Tant les sujets CLAP que les CL/CP étaient à haut risque pour la progression PD si un programme SPT n'était pas suivi. Ceci suggère également que les sites alvéolaires associés au bec de lièvre avec des scores de plaque et de gingivite importants s'accompagnaient de plus de destruction que les sites contrôles sur une période de quatorze années. [source] Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian populationORAL DISEASES, Issue 2 2010LMR Paranaíba Oral Diseases (2010) 16, 193,197 Background:, Interferon regulatory factor 6 (IRF6) gene has emerged as a potential susceptibility gene for non-syndromic cleft lip and/or palate (NSCL/P) in different populations. The aim of this study was to determine the association of IRF6 rs2235371 and rs642961 polymorphisms with NSCL/P in a Brazilian population. Methods:, Two hundred and twenty-eight patients affected by NSCL/P and 126 healthy individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results:, Overall genotype distributions of rs2235371 and rs642961 polymorphisms were as expected by Hardy-Weinberg equilibrium test. The rs2235371 polymorphic genotype GA was identified in 10.1% of the patients with NSCL/P and in 10.3% of the control group, revealing no statistical difference. Similarly, the frequency of rs642961 minor genotypes (GA and AA) was quite similar between control group (28.6%) and NSCL/P group (25.4%), without significant difference. Conclusion:, Our findings are consistent with a lack of involvement of IRF6 rs2235371 and rs642961 polymorphisms in the NSCL/P pathogenesis in the Brazilian population. [source] Skull thickness in patients with cleftsORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 2 2010T Arntsen To cite this article: Arntsen T, Kjær I, Sonnesen L, Mølsted K: Skull thickness in patients with clefts Orthod Craniofac Res 2010;13:75,81 Structured Abstract Authors,,, Arntsen T, Kjær I, Sonnesen L, Mølsted K Objectives,,, The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP). Setting and Sample Population,,, Copenhagen School of Dentistry and Copenhagen Cleft Lip and Palate Centre. Patients with cleft lip, cleft palate, and combined cleft lip and palate and normal adult men. Material and Methods,,, Four groups of patients comprised the study. One group of patients with CL (24 patients; 7 women, mean age 6; 17 men, mean age 7.1), one group of patients with UCLP (28 patients; 11 women, mean age 6.6; 17 men, mean age 6.7), one group of patients with CP (57 male patients aged 18,33), and one normal adult male control group. The CL and UCLP groups were compared. The CP group was compared with the normal adult male control group. Results,,, CL women had a significantly thinner occipital bone compared with CL men (p = 0.027). Women with UCLP had significantly thicker occipital bone than the control women (incomplete CL) (p = 0.014). The study showed gender differences in skull thickness in different cleft types. It also demonstrated that particularly the occipital bone deviated in patients with UCLP, which may explain the considerable deviations in jaw shape and position, previously registered in patients with UCLP. [source] Maxillary arch width in unoperated adult bilateral cleft lip and alveolus and complete bilateral cleft lip and palateORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 2 2010BS Latief To cite this article: Latief BS, Lekkas C, Kuijpers MAR: Maxillary arch width in unoperated adult bilateral cleft lip and alveolus and complete bilateral cleft lip and palate Orthod Craniofac Res 2010;13:82,88 Structured Abstract Authors,,, Latief BS, Lekkas C, Kuijpers MAR Objectives,,, To study maxillary arch width in adult patients with bilateral cleft lip and alveolus (BCLA) or with complete bilateral cleft lip and palate (BCLP), who have not had any surgery. Setting and Sampling Population,,, Eighteen patients with BCLA, 13 patients with BCLP, and 24 controls from remote areas of Indonesia collected over 10 years. Materials and Methods,,, Dental casts were digitized three-dimensionally using an industrial coordinate measuring machine (CCM) (Zeiss Numerex; Carl Zeiss®, Stuttgart, Germany). Transversal distance between molars was measured on the tip of the distobuccal cusp and the tip of the mesiobuccal cusp, and for premolars and canines, the tip of the buccal cusps was recorded. Means and standard deviations were calculated for all variables. t -Test was used to determine whether the mean values of the cleft groups showed significant differences from each other and from the controls. Level of significance was set at p < 0.05. Results,,, Transversal arch dimensions in the BCLA group were comparable to the controls except at the canine level. Intercanine distance, which is close to the alveolar cleft, was 4.3 mm (SE 1.4) smaller in the BCLA group (p = 0.002). In the BCLP group, a comparable pattern was found. At the canine level, mean transversal width was 7.2 mm (SE 1.9) smaller compared to the control group, but no significant differences were found in the other transversal dimensions. Conclusions,,, Small differences are found in transversal dimensions in patients with BCLA and BCLP compared to a control group. Differences are most outspoken in the area near the cleft. [source] Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese populationORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 3 2002K Neiswanger Structured Abstract Authors , Neiswanger K, Cooper ME, Weinberg SM, Flodman P, Bundens Keglovits A, Liu Y, Hu D-N, Melnick M, Spence MA, Marazita ML Objective , To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Design , Case , control study with two control groups (genetically related and unrelated). Setting and Sample Population , A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Methods , Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. Results , In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. Conclusion , These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting. [source] Comments on use of winged laryngoscope blade for endotracheal intubation in children with cleft lipPEDIATRIC ANESTHESIA, Issue 1 2010Fu S. Xue No abstract is available for this article. [source] Infant leukemia and congenital abnormalities: A Children's Oncology Group study,PEDIATRIC BLOOD & CANCER, Issue 1 2010Kimberly J. Johnson PhD Abstract Background Leukemia in infants is rare and has not been well studied apart from leukemia in older children. Differences in survival and the molecular characteristics of leukemia in infants versus older children suggest a distinct etiology, likely involving prenatal factors. Procedure We examined the association between eight categories of maternally reported congenital abnormalities (CAs) (cleft lip or palate, spina bifida or other spinal defect, large or multiple birthmarks, other chromosomal abnormalities, small head or microcephaly, rib abnormalities, urogenital abnormalities, and other) and infant leukemia in a case,control study. The study included 443 cases diagnosed at <1 year of age at a Children's Oncology Group Institution in the United States or Canada from 1996 to 2006 and 324 controls. Controls were recruited from the cases' geographic area either by random digit dialing (1999,2002) or through birth certificates (2003,2008) and were frequency-matched to cases on birth year. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression after adjustment for birth year and a measure of follow-up time to account for differences in the CA observation period. Results No statistically significant associations were observed between infant leukemia and any CA (OR,=,1.2; 95% CI: 0.8,1.9), birthmarks (OR,=,1.4; 95% CI: 0.7,2.5), urogenital abnormalities (OR,=,0.7; 95% CI: 0.2,2.0), or other CA (OR,=,1.4; 95% CI: 0.7,2.8). Results were similar for acute lymphoblastic and myeloid leukemia cases. Fewer than five subjects were in the remaining CA categories precluding analysis. Conclusions Overall, we did not find evidence to support an association between CAs and infant leukemia. Pediatr Blood Cancer 2010;55:95,99. © 2010 Wiley-Liss, Inc. [source] Prenatal diagnosis of orofacial clefts, National Birth Defects Prevention Study, 1998,2004,PRENATAL DIAGNOSIS, Issue 9 2009Candice Y. Johnson Abstract Objective The aims of this study were to determine how frequently orofacial clefts were diagnosed prenatally and to investigate factors associated with prenatal diagnosis. Methods We included 2298 mothers from the National Birth Defects Prevention Study, each of whom gave birth to a child with an orofacial cleft, and assessed associated factors using logistic regression. Results The frequencies of prenatal diagnosis for cleft lip and palate, cleft lip only, and cleft palate only were 33.3%, 20.3%, and 0.3%, respectively. Among cases with cleft lip with or without cleft palate, cleft type, geographic location, maternal body mass index, household income, year of infant's birth, and presence of multiple birth defects were significantly associated with receiving a prenatal diagnosis. Conclusion In the majority of infants with orofacial clefts, a prenatal diagnosis was not made. Receiving a prenatal diagnosis was significantly associated with several infant and maternal characteristics. Copyright © 2009 John Wiley & Sons, Ltd. [source] Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defectsPRENATAL DIAGNOSIS, Issue 6 2008R. Brouns Abstract Objective To investigate the associations between biomarkers and genetic variants involved in homocysteine metabolism and the risk of complex birth defects. Methods Total homocysteine (tHcy), folate, cobalamin, apo-transcobalamin (apo-TC) and apo-haptocorrin (apo-HC) were measured in the amniotic fluid of 82 women who were pregnant with a child having a complex birth defect, such as neural tube defect, cleft lip and/or palate, heart defect or omphalocele, and in 110 women pregnant with a non-malformed child. The determined genotypes of the child comprised of 5, 10-methylenetetrahydrofolate reductase (MTHFR 677C > T, 1298A > C), methionine synthase (MTR 2756A > G), methionine synthase reductase (MTRR 66A > G) and transcobalamin (TCN2 776C > G). Univariate and multivariate logistic regression analyses were performed. Results Significantly lower cobalamin and higher apo-TC, apo-HC, tHcy and folate concentrations were determined in amniotic fluids of cases compared with controls (p,0.001). Logistic regression analysis revealed that after adjustment for maternal age, children carrying the MTHFR 677T allele showed a four-fold increased risk of having a complex birth defect, OR (95% CI) = 4.0 (1.1,15.4). Other genotypes did not show significant associations. Conclusion The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects. Copyright © 2008 John Wiley & Sons, Ltd. [source] The effect of cleft lip and palate, and the timing of lip repair on mother,infant interactions and infant developmentTHE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 2 2008Lynne Murray Background:, Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother,child interactions may be relevant, and could be affected by the timing of lip repair. Method:, We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96 non-affected control infants at 18 months; mother,infant interactions were assessed at two, six and 12 months. Index infants received either ,early', neonatal, lip repair, or ,late' repair (3,4 months). Results:, Index infants did not differ from controls on measures of behaviour problems or attachment, regardless of timing of lip repair; however, infants having late lip repair performed worse on the Bayley Scales of Mental Development; the cognitive development of early repair infants was not impaired. Difficulties in early mother,infant interactions mediated the effects of late lip repair on infant cognitive outcome. Conclusions:, Early interaction difficulties between mothers and infants having late repair of cleft lip are associated with poor cognitive functioning at 18 months. Interventions to facilitate mother,infant interactions prior to surgical lip repair should be explored. [source] Different Gene Expressions on the Left and the Right: A Genotype/Phenotype Mismatch in Need of AttentionANNALS OF HUMAN GENETICS, Issue 1 2008Ursula Mittwoch Summary Discordance in monozygotic twins has traditionally been explained in terms of environmental influences. A recent investigation has found a difference in epigenetic markers in older but not in younger twins. However, phenotypic differences that depend on an individual's postnatal life style do not address the problem of discordance in congenital malformations, or the reason why malformations are frequently unilateral, often with a preference for one or the other side. One such condition, cleft lip with or without cleft palate, which is preferentially expressed on the left, is a multifactorial condition, that is caused by a failure of the critical timing necessary for different groups of cells to meet and develop into a normal face. This process is dependent on cell proliferation and migration, which are energy-dependent, while the additional requirement for apoptosis to allow cell fusion suggests the involvement of mitochondria. Recent progress in two separate areas of research could lead to a better understanding of the problem of facial clefts: (1) the recognition of an interaction between gene products and mitochondria in the aetiology of neurodegenerative diseases and (2) the discovery of an increasing number of genes, including transcription factors, growth factors and members of the TGF-, signalling family, that are differentially expressed on the left and right side, thus pointing to a difference in their micro-environment. These findings emphasize the importance of investigating the activity of candidate genes for complex developmental processes separately on the left and right sides. Data presented in this review suggest that differential growth rates may lead to an inversion of laterality. A method is described to test for a possible mitochondrial difference between left and right sides, using a mouse model with cleft lip. [source] Van der Woude syndrome: dentofacial features and implications for clinical practiceAUSTRALIAN DENTAL JOURNAL, Issue 1 2010AK Lam Abstract Background:, Van der Woude syndrome (VWS) is the most common clefting syndrome in humans. It is characterized by the association of congenital lower lip fistulae with cleft lip and/or cleft palate. VWS individuals have a high prevalence of hypodontia. Although caused by a single gene mutation, VWS has variable phenotypic expression. This study aimed to describe the range of clinical presentations in 22 individuals with VWS to facilitate its diagnosis. Methods:, A retrospective study of 22 patients with a diagnosis of VWS was undertaken at the Australian Craniofacial Unit (ACFU) in Adelaide. Three extended families with affected members were included in the study cohort. Results:, The overall prevalence of lip pits in this study cohort was 86%. Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated cleft hard and soft palate (9%). Missing permanent teeth were reported in 86% of affected individuals. Conclusions:, Submucous cleft palate in VWS may go undiagnosed if the lower lip pits are not detected. Associated hypodontia and resultant malocclusions will also require management by a dental team. [source] Oral cleft defects and maternal exposure to ambient air pollutants in New Jersey,BIRTH DEFECTS RESEARCH, Issue 4 2010Elizabeth G. Marshall BACKGROUND Evidence links exposure to ambient air pollution during pregnancy, particularly gaseous pollutants and particulate matter, to an increased risk of adverse reproductive outcomes though the results for birth defects have been inconsistent. METHODS We compared estimated exposure to ambient air pollutants during early pregnancy among mothers of children with oral cleft defects (cases) to that among mothers of controls, adjusting for available risk factors from birth certificates. We obtained ambient air pollutant data from air monitoring sites in New Jersey for carbon monoxide (CO), nitrogen dioxide (NO2), ozone (O3), sulfur dioxide (SO2), particulate matter <10 ,m in aerodynamic diameter (PM10) and particulate matter <2.5 ,m in aerodynamic diameter (PM2.5). We used values from the nearest monitor (within 40 km of the residence at birth) for controls, cleft lip with or without cleft palate (CLP) and cleft palate only (CPO). RESULTS Based on logistic regression analyses for each contaminant and all contaminants together, there were no consistent elevated associations between selected air pollutants and cleft malformations. Quartile of CO concentration showed a consistent protective association with CPO (p < 0.01). For other contaminants, confidence intervals (95%) of the odds ratios for some quartiles excluded one. CLP showed limited evidence of an association with increasing SO2 exposure while CPO showed weak associations with increasing O3 exposure. CONCLUSION There was little consistent evidence associating cleft malformations with maternal exposure to ambient air pollutants. Evaluating particular pollutants or disease subgroups would require more detailed measurement of exposure and classification of cleft defects. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc. [source] Folic acid,containing supplement consumption during pregnancy and risk for oral clefts: A meta-analysis,BIRTH DEFECTS RESEARCH, Issue 1 2007Rachel L. Badovinac Abstract BACKGROUND: There is equivocal evidence in the published literature that folic acid supplementation during pregnancy may protect against the common congenital anomalies cleft lip with or without cleft palate (CLP) and cleft palate alone (CP). We undertook this meta-analysis to test the hypothesis that nonsyndromic oral cleft birth prevalences are different for those whose mothers took folic acid,containing supplements and for those whose mothers did not. METHODS: Human studies published in English were identified through MEDLINE, bibliography reviews, and contacting experts in the field. Within strata of prospective and case-control studies, CLP, CP, and all clefts, respectively, were analyzed using either a fixed or random effects model, as appropriate. We assessed for publication bias using Begg and Mazumdar's rank correlation and Egger's regression-based tests. RESULTS: Five prospective studies were analyzed, yielding combined relative risks of 0.51 (95% CI: 0.32, 0.95) for CLP, 1.19 (95% CI: 0.43, 3.28) for CP, and 0.55 (95% CI: 0.32, 0.95) for all clefts. Twelve case-control studies were assessed, which resulted in combined relative risks of 0.77 (95% CI: 0.65, 0.90) for CLP, 0.80 (95% CI: 0.69, 0.93) for CP, and 0.78 (95% CI: 0.71, 0.85) for all clefts. CONCLUSIONS: In aggregate, our results support the hypothesis of a protective effect of folic acid,containing supplement intake during pregnancy on the risk for oral clefts, although this conclusion is tempered by the potential for bias and uncontrolled confounding. Birth Defects Research (Part A), 2007. © 2006 Wiley-Liss, Inc. [source] National rates of birth defects among hospitalized newborns,,§BIRTH DEFECTS RESEARCH, Issue 11 2006T.M. Bird Abstract BACKGROUND: The Healthcare Cost and Utilization Project (HCUP) family of hospital discharge databases offer an unprecedented opportunity to generate national estimates of newborn infants with birth defects. This report estimates national hospital admissions for newborn infants diagnosed with birth defects computed from HCUP and compares them to pooled prevalence figures computed from state birth defect surveillance systems. METHODS: HCUP-derived rates of 36 birth defects from 1997 through 2001 were compared to rates derived from pooled data reported by 26 state-based surveillance systems stratified by inclusion of elective terminations in case definitions. Rate ratios (RRs) were calculated for each birth defect by dividing the rate derived from HCUP by the rate derived from the relevant surveillance systems. RESULTS: HCUP newborn hospitalization rates for birth defects closely approximate pooled birth defect rates for surveillance systems that do not include elective terminations. HCUP rates were not significantly different for 35 of 36 defects. Overall, 20 HCUP rates were within 10% of state rates, 11 more were within 20% of state rates, and only 1 differed by more than 50%. HCUP rates compared most closely to state rates for cardiovascular (VSD RR = 0.98, ASD = 0.96, pulmonary valve atresia and stenosis = 0.92), orofacial (cleft palate RR = 1.10, cleft lip = 1.06), and genitourinary defects (obstructive genitourinary RR = 1.01, bladder exstrophy = 0.97). HCUP rates compared less favorably to rates derived from surveillance systems that included elective terminations. CONCLUSIONS: HCUP data approximate state-based surveillance system data for defects that are easily recognized in the newborn period and infrequently a cause for elective termination. HCUP data can be used to examine the impact of public health efforts on the number of infants born with birth defects as well as the cost and consequences of variations in the hospital management of birth defects. Birth Defects Research (Part A), 2006. © 2006 Wiley,Liss, Inc. [source] Risks of selected congenital malformations among offspring of mixed race-ethnicityBIRTH DEFECTS RESEARCH, Issue 10 2004Juan Yang Abstract BACKGROUND Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity. METHODS Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.6 million live births and stillbirths occurred during 1989,2000. Information on parental race-ethnicity (non-Hispanic white, Hispanic, black, and Asian) was obtained from birth certificates and fetal death files. Malformation phenotypes studied were spina bifida, anencephaly, cleft lip, cleft palate, tetralogy of Fallot, d-transposition of great arteries, hypospadias, small intestinal atresia, preaxial polydactyly, microtia, and hypertrophic pyloric stenosis. RESULTS A total of 11.2% of births were to parents of mixed race-ethnicity. Compared to births of parents who were both white, moderately increased risks (risk ratio , 1.7) of anencephaly, polydactyly, and microtia, and decreased risks (risk ratio , 0.6) of hypospadias and hypertrophic pyloric stenosis were observed among births of several mixed race-ethnicity groups. For anencephaly, polydactyly, and microtia, but not other phenotypes, the risks were different depending on whether maternal versus paternal race-ethnicity was considered. Risks observed between births of a nonwhite parent and a white parent and births of parents who were both nonwhite were similar for most malformation phenotypes. CONCLUSIONS Some malformation phenotypes appear to vary in their risk based on mixed racial-ethnic groupings. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc. [source] Maternal age and non-chromosomal birth defects, Atlanta,1968,2000: Teenager or thirty-something, who is at risk?,BIRTH DEFECTS RESEARCH, Issue 9 2004Jennita Reefhuis Abstract OBJECTIVE This investigation explored the association between maternal age and non-chromosomal birth defects to assess any increased risk associated with maternal age. METHODS Birth defect cases were ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP), denominator information was obtained using birth certificate data. Infants with any chromosomal diagnosis were excluded. Effect estimates were calculated using 5-year maternal age categories with 25,29 years as the referent. Multiple logistic regression was used to adjust for maternal race, parity, infant sex, and birth year. RESULTS A total of 1,050,616 singleton infants, born after ,20 weeks gestation in the five counties of metropolitan Atlanta from 1968 through 2000 who did not have a chromosomal abnormality and whose mother was 14 to 40 years old, were included in the analyses, 32,816 of them were identified with birth defects by the MACDP. Young maternal age (14,19 years) was associated with anencephaly (OR = 1.81, 95% CI = 1.30,2.52), hydrocephaly without neural tube defect (OR = 1.56, 95% CI = 1.23,1.96), all ear defects (OR = 1.28, 95% CI = 1.10,1.49), cleft lip (OR = 1.88, 95% CI = 1.30,2.73), female genital defects (OR = 1.57, 95% CI = 1.12,2.19), hydronephrosis (OR = 1.42, 95% CI = 1.11,1.82), polydactyly (OR = 1.29, 95% CI = 1.09,1.52), omphalocele (OR = 2.08, 95% CI = 1.39,3.12), and gastroschisis (OR = 7.18, 95% CI = 4.39,11.75). Advanced maternal age (35,40 years) was associated with all heart defects (OR = 1.12, 95% CI = 1.03,1.22), tricuspid atresia (OR = 1.24, 95% CI = 1.02,1.50), right outflow tract defects (OR = 1.28, 95% CI = 1.10,1.49), hypospadias 2nd degree or higher (OR = 1.85, 95% CI = 1.33,2.58), male genital defects excluding hypospadias (OR = 1.25, 95% CI = 1.08,1.45) and craniosynostosis (OR = 1.65, 95% CI = 1.18,2.30). CONCLUSIONS Young and advanced maternal ages are associated with different types of birth defects. Underlying causes for these associations are not clear. Birth Defects Research (Part A) 70:572,579, 2004. Published 2004 Wiley-Liss, Inc. [source] Maternal vitamin B-6 and folate status and risk of oral cleft birth defects in the PhilippinesBIRTH DEFECTS RESEARCH, Issue 7 2004Ronald G. Munger Abstract BACKGROUND Vitamin deficiencies induce oral clefts in animal experiments, but the role of specific nutrients in human oral clefts is uncertain. METHODS Associations between maternal vitamin B-6 and folate status and risk of nonsyndromic cleft lip, with or without cleft palate (CL/P), were examined in case,control studies at two sites in the Philippines,Negros Occidental and Davao. Cases were mothers of affected children and control mothers were those who had no children with oral clefts. RESULTS The risk of having a CL/P-affected child increased with increasing tertile of vitamin B-6 deficiency in both Negros Occidental and Davao (odds ratios [ORs] and 95% confidence intervals [CIs] for sites combined = 1.0 [reference], OR, 2.94; 95% CI, 1.51,5.73; OR, 4.98; 95% CI, 2.56,9.67). Poor B-6 status had a stronger association with CL/P among mothers with lower versus higher plasma folate levels. Increasing tertiles of plasma folate were marginally associated with an increased risk of clefts in both sites combined (1.0 [reference]; OR, 1.58; 95% CI, 0.93,2.68; OR, 1.59; 95% CI, 0.94,2.70). Increasing tertiles of erythrocyte folate were associated with a decreased risk of CL/P in Negros Occidental (1.0 [reference]; OR, 0.34; 95% CI, 0.13,0.90; OR, 0.46; 95% CI, 0.20,1.09) and an increased risk in Davao (1.0 [reference]; OR, 1.23; 95% CI, 0.54,2.81; OR, 4.85; 95% CI, 2.24,10.50). The inconsistent associations between folate status and CL/P risk appeared to be a result of statistical interaction between folate, vitamin B-6, and case,control status that produced different results in study areas of higher versus lower prevalence of vitamin B-6 deficiency. CONCLUSIONS Poor maternal vitamin B-6 status was consistently associated with an increased risk of CL/P at two sites in the Philippines. Folate-CL/P associations were inconsistent and may be related to the vitamin B-6 status or other characteristics of the populations under study. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc. [source] Sex ratio and associated risk factors for 50 congenital anomaly types: Clues for causal heterogeneityBIRTH DEFECTS RESEARCH, Issue 1 2004Monica Rittler Abstract BACKGROUND Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been found. The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly underlying causes of birth defects. METHODS Between 1982 and 1999, 1,444,646 newborn infants were examined by the Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) network of South American maternity hospitals. Male relative risks were established for 39,425 infants with 50 selected single anomalies. Associations between male sex and risk factors were identified in nonmalformed infants. In malformed infants, sex-related risk differences were established, and the SR of these infants, with and without associated risk factors, were compared. RESULTS Infants with neural tube defects (NTDs) and intrauterine growth restriction had a lower SR than those with normal growth, while spina bifida without hydrocephaly (SB[sHy]) was the only NTD subtype without a significant female predominance. Multigravidity lowered the SR of SB(sHy) and HPP (HPP) cases. Increased paternal age inverted the SR of cleft lip (CL) with or without cleft palate (CL[P]) cases from male to female. CONCLUSIONS The results indicate etiological differences between high and low SB, a stronger relationship between multigravidity and female sex of the offspring than between multigravidity and a specific congenital anomaly, and a possible involvement of dominant mutations for CL(P), as suggested by the association with increased paternal age. Birth Defects Research (Part A) 67:000,000, 2003. © 2003 Wiley-Liss, Inc. [source] First trimester exposure to corticosteroids and oral cleftsBIRTH DEFECTS RESEARCH, Issue 12 2003Pierre Pradat BACKGROUND The possible association between oral cleft in the newborn and maternal exposure to corticoids during pregnancy is still controversial. The aim of this study was to test this association by a case-control analysis using the large multicentric MADRE database. METHODS The MADRE database is a collection of information on malformed infants with a history of maternal first-trimester drug exposure. Nine malformation registries participate in the data collection. Cases were defined as infants presenting with a cleft palate or cleft lip, and exposure was defined by the use of corticosteroids during the first trimester of pregnancy. RESULTS After 12 years of data collection, the database includes data on 11,150 malformed infants. A slight association is observed between exposure to corticoids for systemic use and the occurrence of cleft lip with or without cleft palate (OR, 2.59; 95% CI, 1.18,5.67). CONCLUSIONS If the observed association is real, an interpretation is suggested, based on a likely interaction between corticosteroids and environmental dioxins. It is indeed possible that human fetuses may become sensitive to the teratogenic effect of corticosteroids when they are exposed in utero to environmental pesticides as well. Birth Defects Research (Part A), 2003. © 2003 Wiley-Liss, Inc. [source] | ||||||||||||||||