Opitz trigonocephaly syndrome

Am J Med Genet. 1991 Sep 15;40(4):444-6. doi: 10.1002/ajmg.1320400413.


We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Eisenmenger Complex / genetics*
  • Face / abnormalities
  • Female
  • Genes, Recessive / genetics*
  • Head / abnormalities*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Micrognathism / genetics
  • Pedigree