Literature DB >> 756070

Progressive hearing loss in Goldenhar's syndrome.

A Parving.   

Abstract

A family with Goldenhar's syndrome is presented. The pattern of inheritance is autosomal dominant with incomplete penetrance. The mutant gene in question has variable phenotypic expressivity. Evidence of progressive hearing loss is reported. Congenital facial palsy is suggested to be a part of the syndrome.

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Year:  1978        PMID: 756070     DOI: 10.3109/01050397809043138

Source DB:  PubMed          Journal:  Scand Audiol        ISSN: 0105-0397


  3 in total

1.  Hemifacial microsomia: from gestation to childhood.

Authors:  Martha M Werler; Jacqueline R Starr; Yona K Cloonan; Matthew L Speltz
Journal:  J Craniofac Surg       Date:  2009-03       Impact factor: 1.046

2.  Oculo-auriculo-vertebral dysplasia: case report.

Authors:  C Orzincolo; S Corcione; S Bighi; G Vita
Journal:  Pediatr Radiol       Date:  1987

3.  A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors:  Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal:  Appl Clin Genet       Date:  2011-07-06
  3 in total

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