Literature DB >> 1342853

Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).

I K Temple1.   

Abstract

A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).

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Year:  1992        PMID: 1342853

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

1.  A large family with patent ductus arteriosus and unusual face.

Authors:  H R Davidson
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

2.  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

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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