First-trimester diagnosis of familial split-hand/split-foot malformation

Split-hand/split-foot malformation (SHFM), also called lobster claw deformity or ectrodactyly, is a rare congenital defect expressed as a median cleft of hands, feet, or both due to the absence of the central rays. The reported incidence is approximately 1 per 90,000. The anomaly results from abnormal development of the hand and foot plates during the seventh week of gestation. The malformations can be isolated to the hands and feet with variable expression or more commonly may be seen as part of a syndrome. Typical and atypical forms are recognized. The typical variety has a V-shaped central defect, whereas the atypical form, usually sporadic, has a U-shaped cleft. Advancements in screening sonography have led to the potential for detecting this rare malformation at mid gestation. We report a case of familial SHFM diagnosed by transvaginal sonography at 11 weeks' gestation.