Hydrocephalus

Congenital hydrocephalus associated with a nonsense variant in B3GALNT2 (O-glycan synthesis), with CSF accumulation and ventricular dilation. It causes a domed skull, a wide fontanelle and neurological signs; it is often severe or lethal in the perinatal period. Probably autosomal recessive inheritance. The test is complementary to clinical examination and imaging studies.

Hydrocephalus →