Document Detail


DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.
MedLine Citation:
PMID:  8256819     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients without seizures in infancy. This observation may be useful in discussing the prognosis for newly identified cases.
Authors:
H J Lin; E D Kakkis; D J Eteson; R S Lachman
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  47     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1994-01-13     Completed Date:  1994-01-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  534-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Deafness / genetics
Female
Foot Deformities, Congenital / genetics,  radiography
Genes, Recessive
Hand Deformities, Congenital / genetics,  radiography
Humans
Infant, Newborn
Ketoglutaric Acids / urine
Mental Retardation / genetics
Seizures / genetics
Syndrome
Chemical
Reg. No./Substance:
0/Ketoglutaric Acids; 328-50-7/alpha-ketoglutaric acid

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


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