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Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Relevant markers:
Elbow pterygiaHydranencephaly (no cortex)Micrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPterygia of kneeSevere ventriculomegaly (>15 mm)Parents markers:Contractures/arthrogryposis
References: 2010 Am J Med Genet A Case series (14 cases) Read on PubMed Login for more details.