Three siblings with Robert's syndrome

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Abstract
A Yugoslavian family with 1 female and 2 male infants with Robert''s syndrome is described. The main features were tetraphocomelia with missing or malformed bones of arms and legs, bilateral cleft lip and palate, ectrodactyly, syndactyly of the digits, hypertelorism with exophthalmos at birth, congenital heart defect, 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.

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