Literature DB >> 18359747

A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris.

Assimina Galli-Tsinopoulou1, Eleftheria Emmanouilidou, Paraskevi Karagianni, Maria Grigoriadou, John Kirkos, George S Varlamis.   

Abstract

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.

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Year:  2008        PMID: 18359747     DOI: 10.14310/horm.2002.1111040

Source DB:  PubMed          Journal:  Hormones (Athens)        ISSN: 1109-3099            Impact factor:   2.885


  5 in total

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Authors:  Susan E Puumala; Heather H Nelson; Julie A Ross; Ruby H N Nguyen; Mark A Damario; Logan G Spector
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Review 4.  [Russell Silver syndrome: report of three cases and review of the literature].

Authors:  Afaf Lamzouri; Ilham Ratbi; Abdelaziz Sefiani
Journal:  Pan Afr Med J       Date:  2013-03-08

5.  Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

Authors:  Guido Cocchi; Concetta Marsico; Anita Cosentino; Chiara Spadoni; Alessandro Rocca; Agostina De Crescenzo; Andrea Riccio
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

  5 in total

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