Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome

Clin Genet. 1985 Dec;28(6):550-5. doi: 10.1111/j.1399-0004.1985.tb00425.x.

Abstract

During a systematic survey of the mentally retarded, 3 related females were seen with a similar syndrome of shortness, unusual combination of craniofacial anomalies (trigonocephaly; bulging forehead; flat face; posteriorly angulated, lowset ears and microretrognathia), and genital hypoplasia in all 3 cases, and multiple pterygia in one. The facial changes were also noted in 2 grandmothers and may indicate autosomal dominant inheritance of this presently "private" MCA/MR syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Face / abnormalities
  • Female
  • Genes, Dominant
  • Growth Disorders / congenital
  • Humans
  • Intellectual Disability / genetics
  • Pedigree
  • Pterygium / congenital
  • Syndrome