Document Detail

Fraser syndrome: a case report and review of the otolaryngologic manifestations.
MedLine Citation:
PMID:  7729998     Owner:  NLM     Status:  MEDLINE    
Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and genital abnormalities. These patients also frequently have malformations of the ears, nose and/or larynx. The diagnosis is usually made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Treatment is dependent on which malformations are present and genetic counseling is indicated. Prognosis is dependent on the severity of renal and laryngeal malformations.
D E Karas; D S Respler
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  31     ISSN:  0165-5876     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  1995 Jan 
Date Detail:
Created Date:  1995-06-01     Completed Date:  1995-06-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  IRELAND    
Other Details:
Languages:  eng     Pagination:  85-90     Citation Subset:  IM    
University of Medicine and Dentistry of New Jersey, Section of Otolaryngology, Newark, USA.
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MeSH Terms
Coloboma / complications*
Ear / abnormalities*
Eye Abnormalities*
Genitalia / abnormalities*
Infant, Newborn
Larynx / abnormalities*
Nose / abnormalities*
Severity of Illness Index
Syndactyly / complications*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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