Duplication 7p

Duplication of the short arm of chromosome 7 causes dolicho-cephaly or microbrachycephaly, gaping fontanels, and wide sagittal and metopic sutures, large and low-set ears, and small mouth with downturned corners, micrognathia; other features include choanal atresia/stenosis, skeletal anomalies including hyperextensible joints, camptodactyly and rocker-bottom feet, joint contractures, and cardiac, central nervous system, and genitourinary malformations. Ophthalmic features include hyper-

telorism, epicanthus, up- or downward slanting of the palpebral fissures, and microphthalmia.24,231

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