Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review

Genet Couns. 1993;4(3):193-8.

Abstract

We report on three further cases of mildly retarded patients with marfanoid habitus and a pattern of minor anomalies. These patients are likely to be affected with the Lujan-Fryns syndrome. We have reviewed twenty cases from the literature for a better delineation of this newly recognized disorder.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Arm / abnormalities
  • Facial Bones / abnormalities
  • Foot Deformities, Congenital / pathology
  • Genetic Linkage*
  • Growth Disorders / pathology*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Marfan Syndrome
  • Skull / abnormalities
  • Syndrome
  • X Chromosome*