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Silver-Russell Syndrome: A Review

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Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common are low birth weight, short stature, triangular face, clinodactyly, relative macrocephaly, ear anomalies, and skeletal asymmetry.

Keywords: DYSMORPHIA; IMPRINTING DISORDERS; SHORT STATURE; SILVER-RUSSELL SYNDROME

Document Type: Research Article

Affiliations: University of Malta

Publication date: 01 July 2017

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