Document Detail


Acro-renal-ocular syndrome: expansion of the phenotype.
MedLine Citation:
PMID:  9823489     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the sixth described family with acro-renal-ocular syndrome in a boy and more mildy in his mother. Severe upper limb deficiency, dysplastic kidneys, and strabismus are noted in this child in addition to developmental delay, dysplastic corpus callosum, and incomplete myelination. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an expansion of the phenotype.
Authors:
E Guillén-Navarro; R Wallerstein; E Reich; L Zajac; H Ostrer
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  7     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-02-08     Completed Date:  1999-02-08     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  243-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, New York University Medical Center, NY 10016, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adolescent
Arm / abnormalities*
Child, Preschool
Corpus Callosum / abnormalities
Female
Genes, Dominant
Humans
Kidney / abnormalities*
Male
Phenotype
Strabismus / genetics*
Syndrome
Comments/Corrections
Comment In:
Clin Dysmorphol. 1999 Oct;8(4):299-300   [PMID:  10532182 ]

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


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