Three siblings with Robert's syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001724:Birth Weight; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004480:Ectromelia / Q000235:genetics; D005094:Exophthalmos / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities