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Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
Keywords: Autosomal recessive, split-hand/split-foot malformation, syndactyly
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Introduction
Split-hand/split-foot malformation (SHFM)/ectrodactyly, also known as “lobster claw hand,” is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet and aplasia/or hypoplasia of the phalanges, metacarpals and metatarsals. There is median cleft in the hand and feet due to the absence of the central digital rays, which gives the appearance of a lobster.[1]
We report a case with ectrodactyly involving both hands and feet.
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Case Report
A 6 ½-year-old boy presented with deformed hands and feet since birth. There were median clefts of both hands. In the left hand, there was syndactyly of the middle finger with ring finger and that of the thumb with the index finger and, in the right hand, there was syndactyly of the index finger and thumb [Figure 1a]. The X-rays of the hands [Figure 1b] showed normal metacarpals in both the hands but absence of middle and terminal phalanges of the middle finger in both hands. Both the feet also had a deep midline cleft [Figure [Figure1c1c and andd].d]. There was syndactyly with absence of multiple metatarsals and phalanges in both the feet.
A 6 ½-year-old boy presented with deformed hands and feet since birth. There were median clefts of both hands. In the left hand, there was syndactyly of the middle finger with ring finger and that of the...
