Three siblings with Robert's syndrome

Abstract

A Yugoslavian family with one female and two male infants with Robert's syndrome is described. The main features were: (1) tetraphocomelia with missing or malformed bones of arms and legs; (2) bilateral cleft lip and palate; (3) ectrodactyly; (4) syndactyly of the digits; (5) hypertelorism with exophthalmos at birth; (6) congenital heart defect; (7) low birth weight and failure to thrive. These observations raise the reported cases of Robert's syndrome--including questionable ones--to a total of 26. The most likely basic etiology is a major single recessive gene mutation.