Literature DB >> 426441

Sensorineural hearing loss and pili torti.

C W Cremers, S J Geerts.   

Abstract

Twelve patients with pili torti and sensorineural hearing loss have been described since 1965. We present two new families with this combination of symptoms, and a restudy of a third family. The genetic aspects are discussed. Tentatively it is concluded that pili torti is an autosomal dominant with a low penetrance of a pleiotropic manifestation of sensorineural hearing loss.

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Year:  1979        PMID： 426441     DOI： 10.1177/000348947908800117

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN： 0003-4894            Impact factor:   1.547


  2 in total

1.  The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

Authors:  J F Lubianca Neto; L Lu; R D Eavey; M A Flores; R M Caldera; S Sangwatanaroj; J J Schott; B McDonough; J I Santos; C E Seidman; J G Seidman
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

2.  Bjornstad syndrome.

Authors:  Deepa Aggarwal; Kabir Sardana; Praveen Kumar; Vivek Dewan; V K Anand
Journal:  Indian J Pediatr       Date:  2004-08       Impact factor: 1.967
  2 in total

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