Shashi XLMR syndrome: report of a second family

  • Am J Med Genet A. 2003 Apr 1;118A(1):49-51. doi: 10.1002/ajmg.a.10888.
Nelson H C Castro  1 ,  Rita C Stocco dos Santos ,  Retecher Nelson ,  Willy Beçak ,  Bernhard Hane ,  Charles J Lindsey ,  Herbert A Lubs ,  Roger E Stevenson ,  Charles E Schwartz
Affiliations
  • 1. Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil.
PMID: 12605440 DOI: 10.1002/ajmg.a.10888
Abstract

This report describes a family with mental retardation in two brothers. The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome.