Trisomy Syndromes Trisomy

Trisomy of chromosome 8 only occurs in a mosaic form in live births. Many organ systems may be involved in the disorder. The facial features are characteristic with a prominent forehead, broad-based nose, everted upper lip, high-arched and/or cleft palate, stretched lingual frenulum, micrognathia, and large, dys-plastic ears with a prominent antihelix. The neck is short and broad; the trunk of the body tends to be long and thin. Skeletal anomalies include structural and numerical vertebral abnormalities, spina bifida, scoliosis, pectus carinatum, absent patellae, and hip abnormalities. Renal and ureteral anomalies and cardiac defects are common. Ophthalmic features include hypertelorism, downward slanting of the palpebral fissures, strabismus, blepharoptosis, blepharophimosis, corneal opacities, cataracts, heterochromia of the irides, and colobmatous microph-

thalmia 11,37,99,238,266,282,284,298,373

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