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Craniofacial Anomalies (craniofacial + anomaly)

Distribution by Scientific Domains

Medical Sciences	55%
Life Sciences	44%

Selected Abstracts

Description of a clinical technique for tooth extraction in the cleft lip and palate area

INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 2 2001
G.S. Dalben
Cleft lip and palate are relatively common congenital malformations, which may require specialist paedodontic treatment. In this article, the case of a 9-year-old boy with bilateral complete cleft lip and palate is presented. He attended the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) for routine examination, during which the presence of pre-canine supernumeraries bilaterally in the cleft area was seen. The extraction of these dental elements was justified by extensive carious lesions and because they represented a potential problem during secondary palatoplasty. The precautions needed in tooth extraction in patients with cleft lip and palate are described, together with illustrations of the clinical procedure. [source]

Epidemiology underpinning research in the aetiology of orofacial clefts,

ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 3 2007
Peter Mossey
Structured Abstract Author,,, Mossey P Introduction,,, Epidemiological information gathered through birth defects surveillance is an important adjunct to carrying out clinical and aetiological research. Information on the incidence in the population, causative risk factors and providing baseline data prior to intervention are all important elements. Under the auspices of the World Health Organisation, it was agreed that a global registry and database on craniofacial anomalies should be created and this, the International Database on Craniofacial Anomalies (ICDFA) was designed to gather information on craniofacial abnormalities from existing birth defects registries and databases around the world to become a resource underpinning research. There are currently 62 registries covering 2 million births per year contributing to a database along with information on the size and type of studies used to collect the information, any variation in ascertainment and on the inclusion of syndromes and associated abnormalities. Generation of hypotheses,,, From the epidemiological data collected it is possible to carry out meta-analysis and to search for trends and consistencies in the data that enable hypothesis to be generated. Issues such as geographical distribution, ethnicity, gender, associated abnormalities and clefts in stillbirths can all be examined in a meta-analytical approach. Collection of information on risk factors such as maternal illnesses, medications, lifestyle factors, nutrition and perhaps occupational exposures enables investigation into environmental contribution to causality and genetic predisposition. A range of techniques are currently being used to identify new candidate genes and ultimately it will be necessary to test genetic and environmental hypothesis in the context of human population studies. Conclusions,,, It is only by consistency of association between different populations with different gene pools and maternal exposures, lifestyles, nutrition etc that conclusive evidence regarding causality will be found. It is therefore essential, and a major objective of the WHO that international multicentre collaborative studies are setup to gather the appropriate evidence and improve knowledge and the cause of birth defects in general and orofacial clefts in particular, with the ultimate humanitarian and scientific objective of the WHO being primary prevention. Clinical utility and implications,,, This IDCFA project fulfils three basic objectives namely to enable global surveillance of CFA; to create online access to those who wish to contribute to the IDCFA, and to develop an online directory of resources on craniofacial anomalies for the support of research and improving quality of care. The next sttif for IPDTOC are to expand the number of participating registries and to actively collect data on other craniofacial birth defects. [source]

Stage-dependent craniofacial defects resulting from Sprouty2 overexpression

DEVELOPMENTAL DYNAMICS, Issue 7 2007
L. Henry Goodnough
Abstract Sprouty genes encode intracellular regulators of receptor tyrosine kinases that function in a variety of developmental events. Although mice carrying null mutations in Sprouty genes exhibit craniofacial anomalies, the precise role of these regulatory proteins in facial development remains unclear. Here, we show that overexpression of spry2 at the initiation of craniofacial development results in a dramatic arrest in outgrowth of the facial prominences. Although endogenous spry2 and fibroblast growth factor 8 (fgf8) are coexpressed throughout much of craniofacial development, overexpression of spry2 did not alter the spatiotemporal patterns of fgf target gene expression. The morphological consequences of spry2 overexpression were specific: all of the facial prominences were truncated, but despite this gross malformation, the programs of osteogenesis and chondrogenesis were not impaired. Collectively, these data suggest that Sprouty2 plays a role in the outgrowth of facial prominences independent of canonical Fgf signaling. Developmental Dynamics 236:1918,1928, 2007. © 2007 Wiley-Liss, Inc. [source]

Epidemiology underpinning research in the aetiology of orofacial clefts,

Preserved neurobehavioral abilities in Lujan-Fryns syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2002
Jacobus Donders
Abstract We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities. © 2001 Wiley-Liss, Inc. [source]

Ankyloglossia in Dogs: A Morphological and Immunohistochemical Study

ANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 2 2009
S. Karahan
Summary Ankyloglossia is a congenital anomaly of the tongue that is usually characterized by a short and thick lingual frenulum. The genetic mutations such as in TBox genes and other foetal mechanism have still been under investigation as possible causes of ankyloglossia. This study describes morphology of anklyoglossia phenotype found in members of two closely bred Kangal dog families. Morphology of ankyloglossia and immunohistochemical localization of ,B-crystallin, an anti-apoptotic protein, in the frenulum tissue collected during frenectomy was described. Grossly, the lingual frenulum was observed as it extended up to the tip or near the tip of the tongue. The tip of the tongue was often notched and appeared in ,W' shape. No other craniofacial anomalies were associated with ankyloglossia. Histologically, the frenulum tissue was covered by stratified squamous epithelia of variable thickness. Skeletal muscle fibres were often scattered in the vicinity of collagen fibres of the lamina propria. ,B-crystallin was immunolocalized exclusively in skeletal muscle fibres. In conclusion, ankyloglossia in the dog generally occurs as a sole anomaly. The presence of ,B-crystallin immunoreactivity exclusively in skeletal muscle fibres suggests that there may be a connection between occurrences of ankyloglossia in the dog and a delay or interference with apoptosis of the skeletal fibres in the frenulum tissue. [source]

Risk indicators for hearing loss in infants treated in different Neonatal Intensive Care Units

ACTA PAEDIATRICA, Issue 3 2010
P Van Dommelen
Abstract Aim:, To assess which infants' characteristics and specialized procedures are risk indicators for unilateral or bilateral hearing loss (HL) and to evaluate whether these risk indicators are associated with variation in prevalence of HL between Neonatal Intensive Care Units (NICUs). Methods:, For 2002,2005, data from the NICU hearing screening database in the Netherlands were matched with the national neonatology database in which all NICU infants with their patient characteristics and specialized procedures are registered. Multivariate logistic regression analyses were performed to assess risk indicators for HL and to explain differences in prevalence rates between NICUs. Results:, A total of 10 830 infants were available for analyses. The prevalence of HL was 1.8% and ranged from 0.7 to 3.7% between NICUs. Infants' characteristics that significantly increased the risk of HL were the presence of craniofacial anomalies, chomosomal/syndromal anomalies, central nervous system conditions, circulatory system conditions and intra-uterine infections. The specialized procedures involving ,12 days of intensive care and high frequency oxygenation ventilation were independent risk indicators for HL. Approximately 20% of the variance can be explained by the studied risk indicators. Differences in prevalence rates between NICUs were slightly reduced after adjustment for these risk indicators. NICUs with the highest prevalence rates of HL were situated in the largest cities in the Netherlands with a mixed population because of immigration. Therefore, ethnicity may be a risk indicator. Conclusions:, Several independent risk indicators for HL were found, but they could not explain all differences in prevalence rates of HL between NICUs. [source]

Prevalence and independent risk factors for hearing loss in NICU infants

ACTA PAEDIATRICA, Issue 8 2007
Elysée TM Hille
Abstract Aim: To determine the prevalence and independent relationship between hearing loss and risk factors in a representative neonatal intensive care unit (NICU) population. Methods: Automated auditory brainstem response (AABR) hearing screening has been introduced since 1998 in the Dutch NICUs. After a second AABR failure, diagnostic ABR was used to establish diagnosis of hearing loss. Newborns who died before the age of 3 months were excluded. In the present study only the NICU infants who were born with a gestational age <30 weeks and/or a birth weight <1000 g between October 1, 1998 and January 1, 2002 were included. Risk factors included in the study were familial hearing loss, in utero infections, craniofacial anomalies, birth weight <1500g, hyperbilirubinemia, ototoxic medications, cerebral complications, severe birth asphyxia, assisted ventilation ,5 days and syndromes. Results: A nationwide cohort of 2186 newborns were included. Mean gestational age was 28.5 weeks (SD 1.6) and mean birth weight was 1039 g (SD 256). Prevalence of uni- or bilateral hearing loss was 3.2% (71/2186; 95% CI 2.6,4.1). Multivariate analysis revealed that the only independent risk factors for hearing loss were severe birth asphyxia (OR 1.7; 95% CI 1.0,2.7) and assisted ventilation ,5 days (OR 3.6; 95% CI 2.1,6.0). Conclusion: The prevalence of hearing loss in a representative NICU population was 3.2%. Independent risk factors for hearing loss were severe birth asphyxia and assisted ventilation ,5 days. [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 2006
Marcella 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]