Deletion of the long arm of chromosome 16 causes growth retardation, hypotonia, and craniofacial malformations including a high forehead, large anterior fontanel, prominent metopic suture, diastasis of the cranial sutures, low-set, dysplastic ears, micrognathia, and a short neck. Additional features include intestinal, cardiac, skeletal, and renal malformations. Band 16q21 is believed to be responsible for the distinctive aspects of the syndrome. Ophthalmolgic features include narrow and up-and downward slanting of the palpebral fissures, hypertelorism, strabismus, and epicanthus.105,115,225,292
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