An interstitial deletion of the short arm of chromosome 17 in the p11 band causes mental retardation with hypotonia, seizures, and craniofacial anomalies consisting of micro- and brachycephaly, prominent forehead, a broad face with a flattened midfacial region, broad nasal bridge, malformed and malposi-tioned ears, prominent jaw, and delayed dentition. Additional features include digital anomalies such as broad short hands, hearing loss, deep voice, and cardiac and genital anomalies. Ophthalmic features include up- or downward slanting of the palpebral fissures, strabismus, Brushfield spots of the iris, synophrys, and colobomatous microphthalmia.207-260,328,339
A deletion of the p13 region of the short arm of chromosome 17, Miller-Dieker syndrome, is associated with lissencephaly (smooth brain) and agyri or pachygyria. Additional malformations of the brain may be evident. Affected individuals have severe mental retardation with seizures and hypotonia. Ophthalmic manifestations include hypertelorism, upslanting and/or narrowing of the palpebral fissures, and epicanthus.140
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