Duplication 3p

Partial trisomy of the short arm of chromosome 3 is characterized by multiple anomalies including an unusual facial appearance with micro- and brachycephaly, frontal bossing with temporal indentations, a square-shaped face, a protruding upper lip with a long philtrum, and micrognathia. Skeletal anomalies including a short neck and syndactyly, hirsutism, and cardiac malformations may be evident. Ophthalmic features include hypertelorism, epicanthus, microphthalmia, and cyclopia.129,179,368

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