Article (Scientific journals)
Le cas clinique du mois. Hydrocephalie liee a i'X: a spropos d'un cas en medecine foetale.
Syrios, K.; Delbecoue, K.; GAILLEZ, Stephanie et al.
2011In Revue Médicale de Liège, 66 (3), p. 126-9
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Keywords :
Abortion, Induced; Adult; Cerebral Aqueduct/abnormalities; Female; Genetic Diseases, X-Linked/diagnosis/genetics; Humans; Hydrocephalus/diagnosis/genetics; Male; Mutation; Neural Cell Adhesion Molecule L1/genetics; Pregnancy; Ultrasonography, Prenatal; Young Adult
Abstract :
[en] X-linked hydrocephaly (Li Syndrome) is a rare cause of hydrocephaly. It is, however, the most common genetic form of congenital hydrocephaly and consists of the association of hydrocephaly, mental retardation, leg spasticity and adducted thumbs. The phenotype is variable. A mutation of the LICAM gene is known to be the aetiology of the syndrome. We present an antenatal case managed in our department.
Disciplines :
Genetics & genetic processes
Author, co-author :
Syrios, K.
Delbecoue, K.
GAILLEZ, Stephanie ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Schaaps, Jean-Pierre ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
CHANTRAINE, Frédéric  ;  Centre Hospitalier Universitaire de Liège - CHU > Gynécologie-Obstétrique CHR
Language :
French
Title :
Le cas clinique du mois. Hydrocephalie liee a i'X: a spropos d'un cas en medecine foetale.
Alternative titles :
[en] X-linked hydrocephaly. A case report in fetal medicine
Publication date :
2011
Journal title :
Revue Médicale de Liège
ISSN :
0370-629X
eISSN :
2566-1566
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Belgium
Volume :
66
Issue :
3
Pages :
126-9
Peer reviewed :
Peer reviewed
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