New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities

Clin Dysmorphol. 1996 Jan;5(1):41-7. doi: 10.1097/00019605-199601000-00006.

Abstract

We describe two sibs, one male and one female, presenting a new autosomal recessive multiple congenital anomalies/mental retardation syndrome of 'coarse face', microcephaly, moderate to severe mental retardation, epilepsy and skeletal abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Bone Diseases, Developmental / genetics*
  • Epilepsy / genetics*
  • Face / abnormalities
  • Female
  • Genes, Recessive
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Syndrome