Duplication of long arm of chromosome 15 results in mental and postnatal growth retardation with microcephaly associated with craniofacial features including microdolichocephaly, prominent occiput, sloping forehead, large, low-set ears, prominent bulbous nose, long philtrum and a midline crease in the upper lip, high-arched palate, and micrognathia. Ophthalmic manifestations include downward slanting of the palpebral fissures, narrow palpebral fissures, epicanthus, strabismus, blepharoptosis, cataract, retinal detachment, and microphthalmia.58,121,143,315,397
Duplication of band 1 of the long arm of chromosome 15 causes severe mental retardation with the craniofacial features of an oval face with prominent supraorbital and zygomatic regions, full cheeks, a large nose, low-set ears, and a high-arched or cleft palate; microcephaly may be evident. Additional features include limb anomalies such as short, thick digits and rockerbottom feet, cardiac malformations, and seizures. Signs and symptoms of the Prader-Willi syndrome may be evident. Ophthalmic manifestations include deep-set eyes, stabismus, and microphthalmia.154,265
Was this article helpful?