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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.
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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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