Smith-Fineman-Myers syndrome in two brothers

Am J Med Genet. 1991 Sep 15;40(4):467-70. doi: 10.1002/ajmg.1320400419.

Abstract

We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Body Height / physiology*
  • Cryptorchidism / genetics
  • Face / abnormalities*
  • Failure to Thrive / genetics
  • Genetic Linkage / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Spleen / abnormalities
  • Syndrome
  • X Chromosome*