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20 April 2004

Case report: Silver Russel syndrome: clinical presentation of three cases

Güner Emel Yolsal, Naci Oner, Ahmet Guzel, Yasemin Kucukugurluoglu, Coşkun Celtik, Nermin Tuncbilek

Case Rep Clin Pract Rev 2004; 5(null):184-188 :: ID: 12322

Abstract

Background: Silver Russel Syndrome (SRS), comprise a variable constellation of abnormalities, those which are growth retardation, craniofacial abnormalities, genitourinary and gastrointestinal system
defects. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant, autosomal recessive and X-link dominant inheritance.Case Report: Here, we present three cases who are SRS with hemihypertrophy, café au lait spots, low birth weight, growth failure, clinodactyly in all. The first of the three cases who will be discussed in this paper was a ten-year-old boy who presented growth failure and dysmorphic features. His voice was unusual (high-pitch) and he was passing out spells. The second case was a twelve-year-old boy who was referred from the Urology Department for the evaluation andmanagement of enuresis nocturna and elevated serum creatinine concentrations. He also had dysmorphic features as the other cases and had right renal hypoplasia, grade III left hydronephrosis, posterior urethral valve and bladder trabeculation. The third case was a seven-year-old girl who had significant dysmorphic features with distal syndactyly between 2nd and 3rd fingers. Chromosomal studies of the all cases from cultured peripheral bloodrevealed a normal complement of 46 chromosomes.Conclusions: We present this rare genetic disease in accordance with those three cases to emphasize the diagnostic role of hemihypertrophy in patients with growth retardation and café au lait spots.

Keywords: Silver Russel Syndrome, hemihypertrophy, café au lait spots

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923