Literature DB >> 20577083

A family with hereditary congenital facial paresis and a brief review of the literature.

Ismail S Alrashdi1, Philip Rich, Michael A Patton.   

Abstract

Hereditary congenital facial paresis is a rare syndrome of isolated facial nerve palsy causing facial asymmetry and ptosis. Most described cases follow an autosomal dominant pattern of inheritance. It differs from Moebius syndrome, which is usually sporadic and associated with the involvement of other cranial nerves, commonly the abducens nerve in addition to orofacial and limb malformations and defects of the musculoskeletal system. We present three patients from the same family with features of congenital hereditary facial paresis. Facial asymmetry and facial weakness were the most remarkable findings. High-resolution imaging showed both facial nerves to be present but symmetrically and markedly hypoplastic with no other structural abnormality in the brainstem. This syndrome has been previously mapped to chromosome 3q21-22 but no gene has been identified as yet.

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Year:  2010        PMID: 20577083     DOI: 10.1097/MCD.0b013e32832b7700

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


  4 in total

1.  HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

Authors:  Bryn D Webb; Sherin Shaaban; Harald Gaspar; Luis F Cunha; Christian R Schubert; Ke Hao; Caroline D Robson; Wai-Man Chan; Caroline Andrews; Sarah MacKinnon; Darren T Oystreck; David G Hunter; Anthony J Iacovelli; Xiaoqian Ye; Anne Camminady; Elizabeth C Engle; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2012-07-05       Impact factor: 11.025

2.  A neonate with facial asymmetry.

Authors:  Anand Kumar Gupta; Rashmi Ranjan Das; Shasanka Shekhar Panda; Meely Panda
Journal:  BMJ Case Rep       Date:  2013-07-29

3.  Idiopathic Non-traumatic Facial Nerve Palsy (Bell's Palsy) in Neonates; An Atypical Age and Management Dilemma.

Authors:  Abdulhafeez M Khair; Khalid Ibrahim
Journal:  Oman Med J       Date:  2018-01

4.  Neonatal Cerebellar Hemorrhage and Facial Nerve Palsy: An Unusual Association.

Authors:  Caterina Coviello; Giulia Remaschi; Sabrina Becciani; Simona Montano; Iuri Corsini; Federico Mussa; Massimo Basile; Carlo Dani
Journal:  AJP Rep       Date:  2020-09-02
  4 in total

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