New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

Am J Med Genet. 1992;43(1-2):452-7. doi: 10.1002/ajmg.1320430168.

Abstract

A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / abnormalities
  • Child
  • Child, Preschool
  • Face / abnormalities*
  • Female
  • Genetic Linkage
  • Genitalia, Male / abnormalities*
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / congenital
  • Muscle Hypotonia / genetics*
  • Pedigree
  • Syndrome
  • X Chromosome