Article
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
Clinical genetics - 1 Nov 2020
De Luca Chiara, Crow Yanick J, Rodero Mathieu, Rice Gillian I, Ahmed Melek, Lammens Martin, De Cock Paul, Van Esch Hilde, Lagae Lieven, Rochtus Anne
Abstract excerpt
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder of brain angiogenesis. PVHH has long been considered to be prenatally lethal. We evaluated the phenotypes of the first three siblings with survival into adulthood, performed a systematic review of the Fowler syndrome literature and delineated...
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