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encephaloclastic proliferative vasculopathy

Sunday 3 June 2007

Autosomal recessive disease.

Synopsis

- hydranencephaly
- hydrocephaly
- CNS proliferative vasculopathy

References

- Fowler, M.; Dow, R.; White, T. A.; Greer, C. H. : Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease. Dev. Med. Child Neurol. 14: 173-188, 1972. PubMed ID : 4555262

- Harper, C.; Hockey, A. : Proliferative vasculopathy and a hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings. Dev. Med. Child Neurol. 25: 232-239, 1983. PubMed ID : 6852387

- Moeschler, J. B.; Marin-Padilla, M. : Autosomal recessive encephaloclastic proliferative vasculopathy (hydrocephaly/hydranencephaly). Am. J. Hum. Genet. 45 (suppl.): A55 only, 1989.

- Witters, I.; Moerman, P.; Devriendt, K.; Braet, P.; Van Schoubroeck, D.; Van Assche, F. A.; Fryns, J. P. : Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, Fowler type. Am. J. Med. Genet. 108: 41-44, 2002. PubMed ID : 11857548