[The oto-palato-digital syndrome (Taybi) (author's transl)].
Two girls with typical clinical and radiological signs of the oto-palato-digital (OPD) syndrome are described. The grade of severity attained that usually seen only in boys. The patients are thought to be homozygotes for an autosomal recessive gene, not heterozygote carriers.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis*; D003638:Deafness / Q000175:diagnosis*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007621:Karyotyping; D013577:Syndrome
Das oto-palato-digitale Syndrom (Taybi)