Duplication 8q

Duplication of the long arm of chromosome 8 causes growth retardation and craniofacial features including a prominent and short forehead, a broad and flat nose with a short septum, dys-plastic ears, and a short upper lip. Additional manifestations include a funnel chest, hypertrichosis, and skeletal anomalies including coxa valga and brachy- and clinodactyly. Ophthalmic features include hypertelorism, upward slanting of the palpebral fissures, and colobomatous microphthalmia.122,302,307

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