X-linked mental retardation with marfanoid habitus

Am J Med Genet. 1987 Oct;28(2):267-74. doi: 10.1002/ajmg.1320280202.


Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with marfanoid habitus.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Diseases in Twins*
  • Genetic Linkage*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Marfan Syndrome / complications
  • Marfan Syndrome / genetics*
  • X Chromosome*