Article
On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1997
Alembik Y, Stoll C, Messer J
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Aberrations
- Chromosome Disorders
- Cleft Palate
- Craniofacial Abnormalities
- Deafness
- Female
- Genes, Dominant
- Humans
- Infant, Newborn
- Male
- Osteochondrodysplasias
- Phenotype
- Pregnancy
- Syndrome
- Ultrasonography, Prenatal