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Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome?
Van Maldergem, Lionel; Wetzburger, C.; Verloes, Alain et al.
1992In Clinical Genetics, 41 (1), p. 22-4
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Abstract :
[en] A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan-Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden-Walker syndrome and Tel-Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme phenotypic variant of one of the above-mentioned syndromes.
Disciplines :
Genetics & genetic processes
Author, co-author :
Van Maldergem, Lionel ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Wetzburger, C.
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Fourneau, C.
Gillerot, Y.
Language :
English
Title :
Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome?
Publication date :
January 1992
Journal title :
Clinical Genetics
ISSN :
0009-9163
eISSN :
1399-0004
Publisher :
Wiley, Oxford, United Kingdom
Volume :
41
Issue :
1
Pages :
22-4
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 14 February 2011

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