On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene

Genet Couns. 1997;8(2):133-7.

Abstract

We report two familial cases of oto-palato-digital (OPD) Type II syndrome, a father and his son. This family shows that OPDII syndrome is inherited as an autosomal dominant condition. The similarities between the OPDII syndrome and the Larsen syndrome are discussed.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Cleft Palate / genetics*
  • Craniofacial Abnormalities / genetics*
  • Deafness / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / genetics*
  • Phenotype*
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal