Reference : Le cas clinique du mois. Hydrocephalie liee a i'X: a spropos d'un cas en medecine foetale.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/112299
Le cas clinique du mois. Hydrocephalie liee a i'X: a spropos d'un cas en medecine foetale.
French
[en] X-linked hydrocephaly. A case report in fetal medicine
Syrios, K. [> > > >]
Delbecoue, K. [> > > >]
GAILLEZ, Stephanie mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
Schaaps, Jean-Pierre mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques]
CHANTRAINE, Frédéric mailto [Centre Hospitalier Universitaire de Liège - CHU > > Gynécologie-Obstétrique CHR]
2011
Revue Médicale de Liège
Université de Liège. Revue Médicale de Liège
66
3
126-9
Yes (verified by ORBi)
0370-629X
Liège
Belgique
[en] 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
[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.
http://hdl.handle.net/2268/112299

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