The Börjeson-Forssman-Lehmann syndrome

Am J Med Genet. 1983 Jul;15(3):457-68. doi: 10.1002/ajmg.1320150311.

Abstract

Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson-Forssman-Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow-ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adrenal Glands / physiopathology
  • Adult
  • Female
  • Gonadal Steroid Hormones / physiology
  • Humans
  • Male
  • Pedigree
  • Pituitary Hormones, Anterior / metabolism
  • Pregnancy
  • Syndrome
  • Twins, Monozygotic

Substances

  • Gonadal Steroid Hormones
  • Pituitary Hormones, Anterior