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Abstract

October to December 2020 | Vol. 13 | Issue 4 | 16-19
Silver-Russell Syndrome: Case Report and Insights for Prenatal Diagnosis
Seema Thakur1*, Preeti Palliwal2, Arpana Jain1, Tanu Gera1, Sunita Kapoor3, Deepa Khurana3
1Fortis Hospital, Shalimar Bagh, New Delhi, India, 2Sir Ganga Ram Hospital, New Delhi, India, 3City Xray and Clinic, New Delhi, India
Address for Correspondence Email: seematranjan@gmail.com
 
Abstract
Silver–Russell syndrome (SRS), OMIM #180860, is characterised by prenatal and postnatal growth retardation. The syndrome was initially described in a group of children with low birth weight, atypical facies, postnatal short stature and body asymmetry independently by Silver et. al. (1953) and Russel (1954). The presentation of intrauterine growth retardation and small for gestational age (SGA) is extremely heterogeneous, however SRS can be distinguished from those with idiopathic intrauterine growth retardation or SGA and postnatal growth failure by the presence of several characteristic features. An underlying genetic cause can be identified in around 60% of patients clinically diagnosed with SRS (Netchine et al., 2007).
 
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