Document Detail

A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris.
MedLine Citation:
PMID:  18359747     Owner:  NLM     Status:  MEDLINE    
Silver Russell Syndrome (SRS) is a rare condition (1/3000 - 1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric enlargement of the clitoris. She is the first child of Greek nonconsanguinous parents, born at 38 weeks gestation, following in vitro fertilisation (IVF). The patient had intrauterine growth retardation, body asymmetry, enlarged clitoris, hemihypertrophy of external genitalia and features characteristic of SRS. Electrocardiography and chest X-rays revealed a median position of the heart. The infant fulfilled the criteria proposed by Price et al for SRS. Genetic analysis did not reveal mUPD of chromosome 7. This is the first report of a patient with SRS presenting ìmesocardiaî and asymmetric enlargement of the clitoris. Our case constitutes another paradigm of SRS following IVF, which possibly supports the hypothesis that IVF may be associated with higher prevalence of SRS than natural fertilisation.
Assimina Galli-Tsinopoulou; Eleftheria Emmanouilidou; Paraskevi Karagianni; Maria Grigoriadou; John Kirkos; George S Varlamis
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hormones (Athens, Greece)     Volume:  7     ISSN:  1109-3099     ISO Abbreviation:  Hormones (Athens)     Publication Date:    2008 Jan-Mar
Date Detail:
Created Date:  2008-03-24     Completed Date:  2008-04-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101142469     Medline TA:  Hormones (Athens)     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  77-81     Citation Subset:  IM    
4th Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Greece.
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MeSH Terms
Abnormalities, Multiple / pathology*
Clitoris / abnormalities*,  pathology
Fertilization in Vitro
Fetal Growth Retardation / pathology
Genitalia, Female / abnormalities
Growth / physiology
Heart Defects, Congenital / pathology*
Infant, Newborn

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

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