Title: FG syndrome: the trias mental retardation, hypotonia and constipation reviewed
Authors: Zwamborn-Hanssen, A M ×
Schrander-Stumpel, C T
Smeets, E
De Cock, Paul
Fryns, Jean-Pierre #
Issue Date: 1995
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:6 issue:4 pages:313-9
Abstract: FG syndrome: The trias mental retardation, hypotonia and constipation reviewed: A family with FG syndrome in two males and mild features in their mothers is reported. The data of the present family are compared with the 56 patients from the literature. At birth, affected individuals present with hypotonia and constipation and/or anal anomalies and joint hyperlaxity. Mental deficiency is the rule. Craniofacial dysmorphism is nonspecific. Macrocephaly may be present at birth or develop later in life. Features in older patients include joint contractures and a typical pleasant personality, sometimes with sudden aggressive outbursts. FG syndrome has a variable clinical presentation and clinical diagnosis is difficult, especially in sporadic patients. A thorough family examination with special attention to mild symptoms in female relatives is emphazised.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Brain & Metabolism Section (-)
Youth Health (-)
× corresponding author
# (joint) last author

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