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Familial patent ductus arteriosus: a further case of CHAR syndrome.

Abstract
We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and "duck-bill lips," polydactyly, and fifth finger clinodactyly. The facial traits were consistent with CHAR syndrome. We provide further evidence for evolution of the phenotype with age and describe the previously unreported finding of interstitial polydactyly in this syndrome.
AuthorsA Slavotinek, J Clayton-Smith, M Super
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 71 Issue 2 Pg. 229-32 (Aug 08 1997) ISSN: 0148-7299 [Print] United States
PMID9217229 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Craniofacial Abnormalities (genetics)
  • Ductus Arteriosus, Patent (genetics)
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Polydactyly (genetics)
  • Syndrome

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