Deletion 11q

Individuals with a partial deletion of the long arm chromosome 11 have growth retardation and craniofacial features including trigonocephaly, microcephaly, a short, broad nose with a depressed bridge, and a carp-shaped mouth. Affected individuals may have malformations of the heart or kidney. Ophthalmic features include hypertelorism, epicanthus, up- or downward slanting of the palpebral fissures, strabismus, blepharoptosis, Peters' anomaly, colobomatous microphthalmia, and cyclopia.21,25,110,149,226,235,250,308,345

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