Article
[X-linked hydrocephaly. A case report in fetal medicine].
Revue medicale de Liege - 1 Mar 2011
Syrios K, Delbecoue K, Gaillez S, Schaaps J P, Chantraine F
Abstract excerpt
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.
Topics
- Abortion, Induced
- Adult
- Cerebral Aqueduct
- Female
- Genetic Diseases, X-Linked
- Humans
- Hydrocephalus
- Male
- Mutation
- Neural Cell Adhesion Molecule L1
- Pregnancy
- Ultrasonography, Prenatal