Abstract：
BACKGROUND: X-linked hydrocephalus (HLX) is a form of hydrocephalus with recessive transmission linked to the X chromosome, and a recurrence rate of 50% in male foetuses. It is the commonest genetic form of congenital hydrocephalus, with an incidence of 1/30,000 male births. It is characterized by dilation of the lateral ventricles and mental retardation, usually severe. Other common characteristics are abducted thumbs and spastic paraplegia (or quadriplegia).
METHODS: A baby whose family and clinical history, neuroimaging and genetic studies lead to the diagnosis of HLX.
CONCLUSIONS: Identification of the mutation L1CAM in this family will permit identification of the carriers and make it possible to give genetic counselling and prenatal diagnosis.
METHODS: A baby whose family and clinical history, neuroimaging and genetic studies lead to the diagnosis of HLX.
CONCLUSIONS: Identification of the mutation L1CAM in this family will permit identification of the carriers and make it possible to give genetic counselling and prenatal diagnosis.
摘要：
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