Title: Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy
Authors: Fryns, Jean-Pierre ×
Van Lingen, C
Devriendt, Koenraad
Legius, Eric
Raus, P #
Issue Date: Jun-1998
Series Title: Journal of Medical Genetics vol:35 issue:4 pages:333-5
Abstract: We describe a familial mental retardation syndrome in a 30 year old, moderately mentally retarded female and her 59 year old maternal aunt. Both presented the distinct association of (1) a non-progressive neurological syndrome with ataxia and hypotonia, (2) similar craniofacial appearance with a narrow forehead, prominent supraorbital ridges and tendency to synophrys, deeply set eyes with short, upward slanting palpebral fissures, short philtrum, and large mouth, (3) hypergonadotrophic hypogonadism, and (4) retinal dystrophy with onset in early adulthood.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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