Pierre Robin Sequence With Facial And Digital Anomalies

Clinical Features

In 2 half brothers with the same mother, Chitayat et al. (1991) described the Robin sequence and facial and digital anomalies. Both sons, aged 6 months and 4 years, had normal psychomotor development. The digital features consisted of tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers, and short distal phalanges. The older boy's thumbs had a finger-like shape and the distal phalanx was markedly shorter than the proximal one. The first metacarpophalangeal joints could be easily subluxated. In addition to retrognathia, both boys showed high forehead and frontal bossing. The mother was not related to either of her husbands, and all 3 were of French Canadian origin. The mother had no abnormalities.