title: Orofaciodigital syndrome, type I: a phenotypic and genetic analysis.
abstract: An additional family with the orofaciodigital syndrome. Type I, is presented. On the basis of previously published pedigrees, as well as the present case, data are presented that conclusively support an X-linked dominant mode of inheritance. Segregation analysis demonstrated that not only is there lethality in the male but there is significant lethality in the female due to lyonization. In addition, a review of the familial cases will demonstrate a large degree of intra- and interfamilial variation.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000848:Anodontia / Q000209:etiology; D002971:Cleft Lip / Q000209:etiology; D002972:Cleft Palate / Q000209:etiology; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005838:Genotype; D006222:Hamartoma / Q000209:etiology; D006801:Humans; D008875:Middle Aged; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes; D014062:Tongue Neoplasms / Q000209:etiology