Document Detail

Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.
MedLine Citation:
PMID:  1999828     Owner:  NLM     Status:  MEDLINE    
We report a mother and son with 5th, 6th, 7th, and bulbar cranial nerve paralysis, who had two similarly affected relatives. None of them had primary skeletal defects. Twenty-six previous reports of familial cases within the heterogeneous 'Möbius spectrum of defects' were reviewed. When cranial nerve palsies were associated with a primary skeletal defect, familial transmission was not found. No recurrence was noted in 31 cases with cranial nerve palsies associated with oral abnormalities and limb defects. The term Möbius syndrome should be restricted to cases with congenital 6th and 7th nerve paralysis with skeletal defects, who have a low recurrence risk (2%). The features in an index case which may indicate a higher risk of recurrence are the absence of skeletal defects, isolated facial palsy, deafness, ophthalmoplegia, and digital contractures. A recurrence risk of 25 to 30% in these cases appears reasonable.
K D MacDermot; R M Winter; D Taylor; M Baraitser
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of medical genetics     Volume:  28     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1991 Jan 
Date Detail:
Created Date:  1991-04-11     Completed Date:  1991-04-11     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  18-26     Citation Subset:  IM    
Kennedy Galton Centre, Clinical Research Centre, Northwick Park Hospital, Harrow, Middlesex.
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MeSH Terms
Bulbar Palsy, Progressive / genetics*
Facial Asymmetry / genetics
Facial Expression
Facial Paralysis / genetics*
Infant, Newborn
Oculomotor Nerve Diseases / genetics*

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