Document Detail


Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?
MedLine Citation:
PMID:  15057125     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds. Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating and minor skin lesions. We report here a female infant who had a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome. She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with down-turned corner of the mouth and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She has a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype.
Authors:
Chumei C Li; Bernard N Chodirker; Angelika J Dawson; Albert E Chudley
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  13     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-04-01     Completed Date:  2004-11-10     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  95-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
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MeSH Terms
Descriptor/Qualifier:
Female
Genetic Variation*
Humans
Infant
Mosaicism*
Syndrome
Turner Syndrome*
Uniparental Disomy*

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


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