On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene.
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.
Alembik
Y
Y
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg.
Stoll
C
C
Messer
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002972:Cleft Palate / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal