New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities

Am J Med Genet. 2002 Jan 22;107(3):237-42. doi: 10.1002/ajmg.10136.


We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Child, Preschool
  • Cleft Palate / pathology*
  • Coloboma / pathology*
  • Craniofacial Abnormalities*
  • Eye Abnormalities
  • Genitalia, Male / abnormalities*
  • Humans
  • Infant
  • Intellectual Disability / pathology*
  • Karyotyping
  • Male
  • Skull / abnormalities*
  • Syndrome