The Brachmann-de Lange syndrome. A case report.
The features of the Brachmann-de Lange syndrome are characteristic enough for diagnosis to be made at birth. It is associated with severe physical and mental retardation and its aetiology is obscure, but the syndrome may be heterogenous. Several cases in siblings have been reported, but the case described here appears to be sporadic.
D001827:Body Height; D001835:Body Weight; D002508:Cephalometry; D003635:De Lange Syndrome / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn