Trisomy 22 causes severe growth and developmental retardation, craniofacial anomalies including microcephaly, arhinen-cephalon, depressed nasal bridge with a flat nose, preauricular skin tags, dysplastic ears, and high arched or cleft palate, and micrognathia; other features include cardiac, pulmonary, and gastrointestinal malformations. Individuals with partial or mosaic trisomy 22 have been well described; trisomy 22 in a live birth is rare.
Ophthalmic manifestations epicanthus, hypertelorism, up-or downward slanting of the palpebral fissures, blepharoptosis, strabismus, synophrys, cataract, dislocated lenses, optic nerve hypoplasia, colobomatous microphthalmia, and persistent hyperplastic primary vitreous.12-306,326-372-380
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