Document Detail


Autosomal recessive Silver-Russell syndrome.
MedLine Citation:
PMID:  1285272     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Six children (5 male, 1 female) of normal first cousin Arab parents were found to have Silver-Russell syndrome. Manifestations included intrauterine and postnatal growth retardation, lateral asymmetry, relatively large head, small triangular face with prominent ears, clinodactyly of the fifth fingers, disproportionate toes, and normal psychomotor development. Intrafamilial variability was minimal. Parental consanguinity and affected siblings of both sexes strongly suggest autosomal recessive inheritance. Similar cases from literature are briefly reviewed.
Authors:
A S Teebi
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  1     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1992 Jul 
Date Detail:
Created Date:  1994-02-18     Completed Date:  1994-02-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  151-6     Citation Subset:  IM    
Affiliation:
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
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MeSH Terms
Descriptor/Qualifier:
Child
Developmental Disabilities / genetics*
Dwarfism / genetics
Facial Bones / abnormalities
Female
Fetal Growth Retardation / genetics*
Genes, Recessive*
Hand Deformities, Congenital / genetics
Humans
Male
Syndrome

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


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