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Visual diagnosis: Infant with growth failure, body asymmetry, and dysmorphic features

  • Jersey Shore University Medical Center

Research output: Contribution to journal › Article › peer-review

Abstract

Russell-Silver Syndrome (RSS) is clinically and genetically heterogeneous, which makes it difficult for clinicians to diagnose this condition. RSS should be suspected in patients with prenatal growth restriction, postnatal growth failure, and characteristic features such as triangular facies, relative macrocephaly, and limb abnormalities (body asymmetry and clinodactyly). Genetic testing is available but conclusive in only about one-half of cases. Early recognition and appropriate intervention may play a role in improving the outcome of these patients. There are several support groups and organizations, such as MAGIC Foundation and the Russell-Silver Support Organization, that can provide resources for families and clinicians.

Original languageEnglish
Pages (from-to)e17-e21
JournalPediatrics in Review
Volume34
Issue number5
DOIs
StatePublished - May 2013

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