Abstract

TERAN MIRANDA, Carlos; TERAN ESCALERA, Carlos  and  VILLARROEL ARRATIA, Patricia. Russell-Silver syndrome, a case report. Rev. bol. ped. [online]. 2007, vol.46, n.1, pp.33-35. ISSN 1024-0675.

Russell-Silver syndrome is a clinical important rare disorder of unknown etiology. The diagnosis require a great index of suspicion and is absolutely clinical, supporting its definition in major and minor criteria as the case of this child. We report the case of a 15 month female infant admitted to the hospital for an acute diarrhea syndrome. The patient is product of a twin pregnancy, with a intrauterine growth retardation history, these in contrast with anthropometry and development of her twin sister. Physical examination reveals asymmetry of the lower and upper limbs, as in length as wide diameters. Another finding included a small triangular face with frontal bossing, lips with down-turned corners, micrognathia, clinodactyly of the fifth finger in both hands. A karyotype analysis was made, without any chromosome disorder. We make the diagnosis of Russell silver syndrome based on the clinical findings.

Keywords : Russell-Silver syndrome; Hemihypertrophy.

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