Abstract
Limb deformities are frequent features found during prenatal sonographic screening for malformations. Some anomalies of the hand such as the clenched hands and overlapping fingers in trisomy 18 or the outwardly turned feet in fibular hemimelia are pathognomonic. Others, such as preaxial and postaxial polydactyly, are part of a long list of skeletal anomalies and syndromes. We present a case with several skeletal anomalous features, which clustered around a rare syndrome involving a deletion in the GLI-Kruppel family member 3 (GLI3) gene of chromosome 7. The diagnosis presented a challenge to all involved. It started with the sonographic description of the features of the fetus. The genetic diagnosis was achieved by a comparative genomic hybridization (CGH) microarray.
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