Document Detail

The otolaryngologic manifestations of Sotos syndrome.
MedLine Citation:
PMID:  24060089     Owner:  NLM     Status:  Publisher    
OBJECTIVE: Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist.
METHODS: We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems.
RESULTS: Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss.
CONCLUSIONS: Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients.
Philip Gaudreau; Vincent Zizak; Thomas Q Gallagher
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-9-6
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  -     ISSN:  1872-8464     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-9-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Published by Elsevier Ireland Ltd.
Naval Medical Center, Portsmouth, VA, United States. Electronic address:
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