The physical findings associated with the deletion (total or partial) of the short arm of chromosome 18 are broad. In the mildest form, affected individuals have microcephaly, mild mental retardation, short stature, webbed neck, and immuno-globulin abnormalities.138 In the most severe form, median facial dysplasia with cebocephaly and/or incomplete morphogenesis of the brain may occur, with digital anomalies such as short fingers, high-set thumb(s), and syndactyly. Cardiac, renal, and gastrointestinal malformations are uncommon but may be evident. The ophthalmic features consistently include hypertelorism, epicanthus, blepharoptosis, and strabismus. Cataracts, retinal dysplasia, colobomatous microphthalmia, and synophthalmia/cyclopia have been reported.113,156,188,208,311,395
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