Literature DB >> 6851230

Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy.

S Sellars, P Beighton.   

Abstract

Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function was obtained by surgical intervention in the middle ear.

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Year:  1983        PMID: 6851230     DOI: 10.1111/j.1399-0004.1983.tb00449.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Authors:  Mohammad Yahya Vahidi Mehrjardi; Reza Maroofian; Seyed M Kalantar; Mojtaba Jaafarinia; John Chilton; Mohammadreza Dehghani
Journal:  Mol Syndromol       Date:  2017-06-28
  1 in total

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