Ring

Ring formation of chromosome 14 causes growth delay and cran-iofacial abnormalities including micro- and dolicocephaly, high forehead, bulbous nasal tip, large, low-set ears, high-arched palate, micrognathia, thin upper lip, downturned corners of the mouth, and a short neck with skin folds; other manifestations include seizures, widely spaced nipples, cardiac malformations, pigmentary abnormalities including cafe-au-lait spots and viteligo, and simian creases of the hands. Ophthalmic features include hypertelorism, epicanthus, downslanting of the palpebral fissures, and alterations of the retinal pigmental epithelium.32,158,205,314

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