Trisomy of the short arm of chromosome 9 is characterized by relatively consistent facial features including brachyce-phaly, bulbous nose, low-set and/or dysplastic ears, short philtrum, downturned corners of the mouth, cleft lip/palate, and a "worried appearance." Mental retardation and microcephaly occur in all cases. Delayed bone maturation, skeletal anomalies such as brachy- and clinodactyly and nail hypoplasia, and cardiac anomalies may be evident. Ophthalmic features include hypertelorism, downward slanting of the palpebral fissures, entropion, strabismus, cataracts, optic atrophy, and enophthalmia.230,282,327,342,363,388,403
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