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The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
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  • Published on: 15 January 2019
    A mini review with an original Case report: Russell-Silver Syndrome (RSS)
    • Taranika Sarkar, Assistant lecturer Careers Abroad Institute School of Medicine, Jamaica,WI
    • Other Contributors:
      • Charles Allison, Consultant Physician

    Dr. Charles Allison,Dr. Taranika Sarkar,

    and Prof.Dr.Jogenananda Pramanik

    Careers Abroad Institute School of Medicine, Mandeville, Manchester, JM, WI.

    We read and applauded the insightful article on clinical presentation of Russell-Silver syndrome with detail molecular diagnostic criteria as presented by Price S M., et al.[1] The low birth weight child who is non-dysmorphic with a prominent forehead and triangular face is more likely to be diagnosed as SRS if they have fifth finger clinodactyly, which in itself is not uncommon.[1] The genetic syndromes which affects growth and intellectual disability have been studied extensively. It has been proved by numerous large scale studies that IUGR is associated with significant neurodevelopmental impairment.
    From a meta analysis conducted by AAP it was concluded that IUGR is associated with lower cognitive scores for school age children. Furthermore children with IUGR born SGA reared in poorer environment demonstrate significant lower professional attainment and income than those reared in more stimulating environment. Here I present a case of
    Russell-Silver Syndrome (RSS or SRS) which is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alterations. It is characterized by prenatal and postnatal growth retardation, relative macrocephaly, the triangular face and body asymmetry.[ 6] Its incidence varies from 1 in 30,000 to 1 in 1,00,000 people. Individuals with RSS...

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    Conflict of Interest:
    None declared.