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Oto-palato-digital syndrome type II.
Stoll C, Alembik Y.
Institut de puericulture, Centre hospitalier et Universitaire, Strasbourg,
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.
PMID: 8031537 [PubMed - indexed for MEDLINE]