Smith-Fineman-Myers syndrome: report on a large family

Am J Med Genet. 1993 Sep 1;47(3):307-11. doi: 10.1002/ajmg.1320470302.

Abstract

Smith-Fineman-Myers syndrome is considered an X-linked mental retardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X-linked inheritance. Here we reported on 5 males with Smith-Fineman-Myers syndrome with similar phenotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith-Fineman-Myers syndrome being a rare XLMR syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Hand Deformities, Congenital / genetics*
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Muscle Hypotonia / congenital
  • Muscle Hypotonia / genetics*
  • Pedigree
  • Phenotype
  • Syndrome
  • X Chromosome*