Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome

Clin Dysmorphol. 1997 Jul;6(3):239-44. doi: 10.1097/00019605-199707000-00007.

Abstract

We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Astigmatism / genetics
  • Blepharoptosis / genetics*
  • Brain / abnormalities
  • Child
  • Child, Preschool
  • Consanguinity
  • Face / abnormalities*
  • Female
  • Genes, Recessive
  • Humans
  • Hypertelorism / genetics*
  • Intellectual Disability / genetics*
  • Male
  • Neck / abnormalities
  • Nose / abnormalities
  • Nystagmus, Pathologic / congenital
  • Nystagmus, Pathologic / genetics
  • Pedigree
  • Seizures / genetics
  • Syndrome