Duplication of the short arm of chromosome 17 is extremely rare. Features include pre- and postnatal growth retardation with severe developmental delay. Facial features include frontal bossing, a round face with midface hypoplasia, low-set ears, micrognathia, and cleft lip/palate. Cardiac malformations may occur. Ophthalmic features include hypertelorism, up- or downward slanting and/or narrowing of the palpebral fissures, ble-
pharoptosis, and microphthalmia.19,93,216
Was this article helpful?