Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies

Am J Med Genet. 1991 Dec 15;41(4):423-5. doi: 10.1002/ajmg.1320410407.


We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Female
  • Genes, Recessive
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Iris / abnormalities
  • Male
  • Nose / abnormalities
  • Syndrome