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Other Congenital Anomalies (other + congenital_anomalies)

Distribution by Scientific Domains

Medical Sciences	50%

Selected Abstracts

Biventricular Noncompaction: A Case Report

ECHOCARDIOGRAPHY, Issue 9 2008
Kursat Tigen M.D.
Myocardial noncompaction is an extremely uncommon cardiomyopathy. It can present as an isolated cardiac malformation or in association with other congenital anomalies. The left ventricle is usually affected, but a biventricular involvement rarely occurs. A predominant right ventricular involvement has not been reported. Here, we report an 18-year-old woman with biventricular noncompaction that predominantly involves the right ventricle. [source]

Aplasia Cutis Congenita in a Defined Population from Northwest Spain

PEDIATRIC DERMATOLOGY, Issue 6 2006
Soledad Martinez-Regueira M.D.
It may occur as an isolated defect or associated with other anomalies. This study sought to determine the frequency of this condition over a 10-year-period at the single hospital for a well-defined population. A literature review of potential mechanisms implicated in the development of this condition was also conducted. A retrospective review of all case records of patients diagnosed with aplasia cutis congenita between January 1994 and December 2003 at Hospital Xeral-Calde, in the Lugo region of northwest Spain was undertaken. During the period of study four patients were diagnosed with this condition. Three of them were of the gypsy race. These three had aplasia cutis congenita associated with epidermolysis bullosa and deformed nails. The incidence of aplasia cutis congenita in our region was 2.8 cases per 10,000 newborns. It was found that the incidence of this disorder in northwest Spain was similar to that described in the literature. Careful study due to the frequent association of aplasia cutis congenita with other congenital anomalies and a complete obstetric and family history of all affected individuals are required to identify possible specific teratogens, intrauterine infections, chromosomal abnormalities, or history of this condition among relatives. [source]

Vitamin supplements and the risk for congenital anomalies other than neural tube defects,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2004
Lorenzo D. Botto
Abstract Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural tube defects (NTDs). Whether this is true also for other congenital anomalies is a complex issue and the focus of this review. It is useful to consider the evidence not only for specific birth defects separately but, importantly, also for all birth defects combined. For the latter, the Hungarian randomized clinical trial indicated, for periconceptional multivitamin use, a reduction in the risk for all birth defects (odds ratio (OR),=,0.53, 95% confidence interval (CI),=,0.35,0.70), even after excluding NTDs (OR,=,0.53, 95% CI,=,0.38,0.75). The Atlanta population-based case-control study, the only large observational study to date on all major birth defects, also found a significant risk reduction for all birth defects (OR,=,0.80, 95% CI,=,0.69,0.93) even after excluding NTDs (OR,=,0.84, 95% CI,=,0.72,0.97). These and other studies also evaluated specific anomalies, including those of the heart, limb, and urinary tract, as well as orofacial clefts, omphalocele, and imperforate anus. For cardiovascular anomalies, two studies were negative, whereas three, including the randomized clinical trial, suggest a possible 25,50% overall risk reduction, more marked for some conotruncal and septal defects. For orofacial clefts, six of seven case-control studies suggest an apparent reduced risk, which could vary by cleft type and perhaps, according to some investigators, by pill dosage. For limb deficiencies, three case-control studies and the randomized trial estimated approximately a 50% reduced risk. For urinary tract defects, three case-control studies and the randomized trial reported reduced risks, as did one study of nonsyndromic omphalocele. All these studies examined multivitamin supplement use. With respect to folic acid alone, a reduced rate of imperforate anus was observed among folic acid users in China. We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects. © 2004 Wiley-Liss, Inc. [source]

Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2002
Maik Urban
Abstract Prenatal and postnatal findings in three fetuses with a ring chromosome 6 are presented, and the literature of this rare cytogenetic disorder is reviewed. The described fetuses illustrate the broad spectrum of the clinical manifestation of ring chromosome 6. In one fetus, the disorder was diagnosed incidentally by a routine amniocentesis due to advanced maternal age. The other two fetuses were hydrocephalic and had other congenital anomalies. Remarkably, the ring chromosome 6 tends to disappear in cultured amniotic fluid cells; karyotyping revealed complete or nearly complete monosomy 6. In contrast, the ring was preserved in high proportions of fetal leukocytes. Postnatal growth retardation is the only consistent finding of this chromosomal disorder. Maternal age is not significantly above average. An additional review of 20 literature cases revealed a striking tendency to hydrocephalus, either due to deficient brain growth or secondary to an aqueductal stenosis. Children with hydrocephalus and ring chromosme 6 tend to display facial dysmorphism and may have additional malformations, growth failure, eye anomalies, and seizures. In contrast, there are two reports on children with a ring chromosome 6 who had short stature, normal appearance, and a normal or almost-normal psychomotor development. In such patients at the mild end of the clinical spectrum, the phenotype is basically restricted to what Kosztolányi. [1987: Hum Genet 75:174,179] delineated as "ring syndrome," comprising "severe growth failure without major malformations, without a specific deletion syndrome, with only a few or no minor anomalies, and mild to moderate mental retardation." This "ring syndrome" is considered to occur independently of the autosome involved in the ring formation. The overall impression from our cases and from the literature review of cases with ring chromosome 6 is that the karyotype-genotype correlation is poor. This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis. © 2002 Wiley-Liss, Inc. [source]