Document Detail


Progressive hydrocephalus in two members of a family with autosomal dominant Noonan phenotype.
MedLine Citation:
PMID:  9134296     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 severe cyanotic pulmonary valve stenosis with multiple malformations lethal in early childhood. We consider this to be an unusual variant of Noonan syndrome.
Authors:
W Henn; H Reichert; H Nienhaus; M Zankl; A Lindinger; W Hoffmann; K D Zang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  6     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1997 Apr 
Date Detail:
Created Date:  1997-07-07     Completed Date:  1997-07-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  153-6     Citation Subset:  IM    
Affiliation:
Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Genes, Dominant*
Humans
Hydrocephalus / pathology*
Infant
Noonan Syndrome / genetics,  pathology*
Pedigree
Phenotype
Comments/Corrections
Comment In:
Clin Dysmorphol. 1997 Oct;6(4):379   [PMID:  9354850 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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