Deletion 4p Wolf Hirschhorn Syndrome

The physical findings in partial deletion of the short arm of chromosome 4 (see Fig. 3-3) include microcephaly, seizures, prominent glabella, midline scalp defects, preauricular dimple, cleft lip/palate or high arched palate, deformed nose, hemangiomas, hydrocephalus, and undescended testes and hypospadias in males.393 Colobomatous microphthalmia is common as is hyper-telorism, epicanthus, and downward slanting of the palpebral fissures and strabismus; blepharoptosis, corneal opacities (Peters' anomaly), the anterior segment abnormalities of Rieger's anomaly, and cataracts may occur.185,218,382

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