The Borjeson‐Fbrssman‐Lehmann syndrome

Publisher Website
Google Scholar
Abstract
The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck.Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X‐linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.