Document Detail

The Boy Who Lost His Smile: Facioscapulohumeral Dystrophy in the Head and Neck.
MedLine Citation:
PMID:  25059448     Owner:  NLM     Status:  Publisher    
BACKGROUND: Facioscapulohumeral dystrophy is the third most common muscular dystrophy and the one most likely to present primarily in the head and neck.
METHODS: In this report, we present a case of a young child with subtle progressive bilateral facial weakness whose workup ultimately led to this diagnosis. Paralysis in this disorder is secondary to worsening muscle atrophy, which typically progresses in a cephalad to caudad direction. Despite facial paralysis being a key and early component of this illness, no prior descriptions in the otolaryngology literature exist.
DISCUSSION: The case described is unusual in that the patient initially presented to a community otolaryngologist. In addition to workup, the disease characteristics, head and neck manifestations, and prognosis are discussed.
Jonathan C Kopelovich; Scott Owen; Katherine D Mathews; Douglas K Henstrom
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-7-24
Journal Detail:
Title:  The Annals of otology, rhinology, and laryngology     Volume:  -     ISSN:  0003-4894     ISO Abbreviation:  Ann. Otol. Rhinol. Laryngol.     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-7-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0407300     Medline TA:  Ann Otol Rhinol Laryngol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© The Author(s) 2014.
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