Hydrocephalus due to congenital stenosis of aqueduct of Sylvius

Definition:

Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene.

References:

[1]. Bobo Xie, et al. Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case report. Mol Med Rep. 2018 Dec;18(6):5760-5764. [Content Brief]

[2]. Z Habib, et al. Neonatal X-linked hydrocephalus. Findings in two affected brothers. Hereditas. 1979;91(1):79-82. [Content Brief]

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