1/3. Limb-body wall complex: a case series.OBJECTIVE: Limb-body wall complex (LBWC) is a rare fetal polymalformation of uncertain etiology, but it has been regarded as sporadic in nature with a low recurrence risk. We review a case series in light of recent evidence about possible genetic and environmental associations. methods: All abortions or births coded as limb-body wall defect or fetal acrania/exencephaly or with unclassified polymalformation between January 1996 and January 2001 were audited. RESULTS: During the 5-year period there were 33,286 live births in our region. Eleven cases met the criteria of LBWC giving an incidence of 0.33/1000 live births. In 50%, 50% and 30% of women a history of cigarette, alcohol and marijuana use, respectively, was noted. Furthermore, 40% of the women had a history of a previous infant with a congenital anomaly. One patient delivered two consecutive male infants with LBWC. CONCLUSIONS: Whilst the majority of cases of LBWC are sporadic, some women may have an underlying genetic predisposition. It may be prudent to advise against the use of alcohol, cigarettes and other drugs and to offer an ultrasound scan in a tertiary referral center in a subsequent pregnancy.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/3. The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/3. Fetal hydantoin syndrome in triplets. A unique experiment of nature.Birth defects associated with phenytoin and phenobarbital taken during pregnancy include craniofacial and limb deformities. These anomalies were found in various degrees of severity in triplets born to a mother taking phenobarbital and phenytoin for an epileptic disorder, giving us a unique opportunity to recognize different manifestations of the hydantoin syndrome in infants that presumably were exposed to the same level of the drugs. These infants were trizygotic and their clinical manifestations varied widely, suggesting the possibility that genetic background may play a significant role in the susceptibility of the fetus to phenytoin and phenobarbital during pregnancy.- - - - - - - - - - ranking = 4keywords = nature (Clic here for more details about this article) |