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The Borjeson-Forssman-Lehmann syndrome. A family study.

Authors
  • Dereymaeker, A M
  • Fryns, J P
  • Hoefnagels, M
  • Heremans, G
  • Marien, J
  • van den Berghe, H
Type
Published Article
Journal
Clinical genetics
Publication Date
Apr 01, 1986
Volume
29
Issue
4
Pages
317–320
Identifiers
PMID: 3720009
Source
Medline
License
Unknown

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.

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