Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.

Abstract

X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long and thin face, epicanthic folds, almond-shaped eyes, upslanting palpebral fissures and micrognathia and behavioral problems. Carrier females have normal physical appearance and intelligence. This combination of features is unreported and distinct from Lujan-Fryns syndrome, Snyder-Robinson syndrome, and zinc finger DHHC domain-containing 9-associated MR. We propose the name of this new syndrome to be CK syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Body Constitution*
  • Cerebral Cortex / abnormalities*
  • Child
  • Child, Preschool
  • Facies
  • Fatal Outcome
  • Female
  • Hand / diagnostic imaging
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Mental Retardation, X-Linked / complications*
  • Mental Retardation, X-Linked / genetics*
  • Microcephaly / complications*
  • Microcephaly / genetics*
  • Middle Aged
  • Pedigree
  • Pregnancy
  • Radiography