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Malformations of the face and skull represent a large portion of structural malformations in humans. These malformations can carry significant morbidity and often require surgical management within the first few months of life. Many children with craniofacial malformations are managed by multidisciplinary teams that often include an audiologist, dietician, geneticist, neurosurgeon, nurse coordinator, pediatrician, oral and maxillofacial surgeon, orthodontist, otolaryngologist, plastic/reconstructive surgeon, social worker, and speech pathologist. This chapter presents the major types of craniofacial malformations, their classification, heredity, and suggested management.


All children born with structural malformations of the face and/or skull require a careful physical examination, as many (20%) have associated anomalies that can involve multiple systems. When approaching the examination of a child with a craniofacial malformation, one needs to examine the entire child. The malformations of craniofacial structures can be so dramatic that the examiner overlooks other associated anomalies that deserve attention and may be associated with a unifying diagnosis. One approach is to leave the examination of the skull and face until the rest of the exam is complete. This allows the examiner to be sure that the other portions of the exam are normal. A list of common syndromes associated with each malformation type is presented in Table 177-1.

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Table 177-1. Common Malformations and Syndromes Involving Craniofacial Structures

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