Le cas clinique du mois. Hydrocephalie liee a i'X: a spropos d'un cas en medecine foetale.

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 :

Issue :

Pages :

126-9

Peer reviewed :

Peer reviewed

Available on ORBi :

since 20 February 2012

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