BRACHYDACTYLY WITH ABSENCE OF MIDDLE PHALANGES AND HYPOPLASTIC NAILS

Abstract

1. A seven-generation family is described which presented an autosomal dominant hereditary disorder characterised by brachydactyly, hypoplastic nails from the index to the little fingers, normal toe nails, absent middle phalanges in the fingers and lateral four toes, variable degrees of hypoplasia of the distal phalanges in the fingers with normal thumbs and normal big toes. 2. Less frequently syndactyly between middle and ring fingers on the left and narrowing of the proximal phalanges of the ring and little fingers are also found. 3. This disorder seems to represent a new hereditary syndrome.