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.
Institut de puériculture, Centre hospitalier et Universitaire, Strasbourg, France.
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Stoll
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Alembik
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