Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / classification
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Adult
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Bone Diseases, Developmental / classification
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Bone Diseases, Developmental / diagnosis
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Bone Diseases, Developmental / genetics
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Cleft Palate / classification
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Cleft Palate / diagnosis
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Cleft Palate / genetics*
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Ear Ossicles / abnormalities
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Facial Bones / abnormalities*
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Follow-Up Studies
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Hearing Loss, Conductive / classification
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Hearing Loss, Conductive / diagnosis
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Hearing Loss, Conductive / genetics*
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Humans
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Intelligence / genetics
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Male
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Phenotype
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Skull / abnormalities*
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Spina Bifida Occulta / classification
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Spina Bifida Occulta / diagnosis
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Spina Bifida Occulta / genetics
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Syndrome