Split hand/split foot deformity with focal dermal hypoplasia [Goltz syndrome]

We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic

Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1) ]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5) ]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2) ]; amniotic band syndrome (n=3) ; and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1) ]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) ] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

Limb-body wall complex, report of 2 cases with their quintessence in prenatal diagnosis.

Limb-body wall complex is a complicated fetal malformation with the essential features of: 1) exencephaly/encephalocele with facial clefts, 2) thoraco- and/or abdominoschisis, and 3) limb defect. The diagnosis was based on two of three of the above features. We report 2 cases of limb-body wall complex. The first case had thoraco-abdominal and limb anomalies while the other had abdominal wall, limb and neuro-facial anomalies. Both cases were diagnosed prenatally by ultrasonography. They were terminated by medical induction. Chromosome studies were evaluated for academic purposes. Autopsies were done to confirm diagnosis. Aspects of their varieties of clinical features, differences in differential diagnosis, and pitfalls in prenatal diagnosis were discussed.