Duplication 8p

Trisomy of the short arm of chromosome 8 is characterized by a high, prominent forehead, an everted lower lip, a poorly defined philtrum, macrostomia with gingival hypertrophy, a low nasal bridge and anteverted nostrils, and large, soft ears with excess folds. Hypotonia is common. Other features include flexion contractures and clubfeet; cardiac, central nervous system, and renal malformations; and spina bifida. Ophthalmic features include hypertelorism and upward slanting of the palpe-

bral fissures.56,111,217

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