The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report.
A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.
D000293:Adolescent; D000886:Anthropometry; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D011859:Radiography