Oto-palato-digital syndrome type II.
We report a patient with a sporadic case of oto-palato-digital (OPD) syndrome type II. Parents and five previous sibs are normal. At 26 years of age the patient had conductive hearing impairment, cleft palate, a prominent forehead, a flat facies, and a broad nasal base resulting in the characteristic "pugilistic" appearance. Extension and supination were limited at the elbows; thumbs and halluces were broad. Many radiological abnormalities were noted: malformations of the cervical spine, pelvic abnormalities, bilateral coxa valga, genu valgum, small fibulae, pes equino varus, and 15 carpal bones. IQ improved dramatically from 65 to 95.
Stoll
C
C
Institut de puériculture, Centre hospitalier et Universitaire, Strasbourg, France.
Alembik
Y
Y
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D001848:Bone Diseases, Developmental / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D004429:Ear Ossicles / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005500:Follow-Up Studies; D006314:Hearing Loss, Conductive / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D016136:Spina Bifida Occulta / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome