Literature DB >> 2618829

Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families.

M T Dotti, A Federico, S Palmeri, G C Guazzi.   

Abstract

Moebius syndrome is usually sporadic. The few familial cases reported in the literature have autosomal dominant inheritance, with absence of the associated congenital malformations often described in the sporadic form. Here we report two families with more than one member affected by congenital, unilateral paresis of cranial nerves, transmitted with autosomal dominant inheritance.

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Year:  1989        PMID: 2618829

Source DB:  PubMed          Journal:  Acta Neurol (Napoli)        ISSN: 0001-6276


  2 in total

1.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

2.  An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Authors:  Ronak M Patel; David Liu; Claudia Gonzaga-Jauregui; Shalini Jhangiani; James T Lu; V Reid Sutton; Susan D Fernbach; Mahshid Azamian; Lisa White; Jane C Edmond; Evelyn A Paysse; John W Belmont; Donna Muzny; James R Lupski; Richard A Gibbs; Richard Alan Lewis; Brendan H Lee; Seema R Lalani; Philippe M Campeau
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-03
  2 in total

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