Literature DB >> 9217229

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

A Slavotinek1, J Clayton-Smith, M Super.   

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.

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Year:  1997        PMID: 9217229

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Authors:  Arya Mani; Jayaram Radhakrishnan; Anita Farhi; Khary S Carew; Carole A Warnes; Carol Nelson-Williams; Ronald W Day; Barbara Pober; Matthew W State; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2005-01-31       Impact factor: 11.205

2.  Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome.

Authors:  Chun-Hong Xie; Jian-Bin Yang; Fang-Qi Gong; Zheng-Yan Zhao
Journal:  Yonsei Med J       Date:  2008-06-30       Impact factor: 2.759

Review 3.  Patent arterial duct.

Authors:  Jonathan T Forsey; Ola A Elmasry; Robin P Martin
Journal:  Orphanet J Rare Dis       Date:  2009-07-10       Impact factor: 4.123

  3 in total

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