Trisomy

Trisomy 9 is rare in live births; most cases are mosaic. Microcephaly and intrauterine growth retardation are consistent features. Facial features include micrognathia, low-set ears, and a broad-based nose with a bulbous tip. Skeletal abnormalities are consistently present and include fixed or dislocated large joints, hypoplastic or displaced bones, and hand anomalies; genital and renal anomalies may occur. Ophthalmic features include up- or downslanting of the palpebral fissures, narrow palpebral fissures, hypertelorism, epibulbar dermoid, corneal opacities, enophthal-mos, and microphthalmia.72,91,173,200,202,212,281,303,344,385

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