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Article

Progressive hydrocephalus in two members of a family with autosomal dominant Noonan phenotype.

Clinical dysmorphology - 1 Apr 1997

Henn W, Reichert H, Nienhaus H, Zankl M, Lindinger A, Hoffmann W, Zang K D

Abstract excerpt

We present a family with an autosomal dominant phenotype characterized by pulmonary valve stenosis, craniofacial dysplasia with marked hypertelorism and, as a variable feature, progressive hydrocephalus. This phenotype is manifested in four patients from three subsequent generations of a family, with expression ranging from mild pulmonary stenosis combined with slight but characteristic facial dysmorphism to...

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PMID: 9134296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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