Three siblings with Robert's syndrome.
Clin Genet, 1976/4;9(4):433-6.
PMID: 177235
Impact factor: 4.296
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.
MeSH terms
Abnormalities, Multiple; Adult; Birth Weight; Cleft Lip; Cleft Palate; Ectromelia; Exophthalmos; Female; Fingers; Heart Defects, Congenital; Humans; Hypertelorism; Infant, Newborn; Male; Syndactyly; Syndrome; Toes
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