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Identifying the Misshapen Head: Craniosynostosis and Related Disorders

Mark S. Dias et al. Pediatrics September 2020, 146 (3) e2020015511

Abstract

Pediatric care providers, pediatricians, pediatric subspecialty physicians, and abstract other health care providers should be able to recognize children with abnormal head shapes that occur as a result of both synostotic and deformational processes.
 
The purpose of this clinical report is to review the characteristic head shape changes, as well as secondary craniofacial characteristics, that occur in the setting of the various primary craniosynostoses and deformations. As an introduction, the physiology and genetics of skull growth as well as the pathophysiology underlying craniosynostosis are reviewed.
 
This is followed by a description of each type of primary craniosynostosis (metopic, unicoronal, bicoronal, sagittal,lambdoid,and frontosphenoidal) and their resultant head shape changes, with an emphasis on differentiating conditions that require surgical correction from those (bathrocephaly, deformational plagiocephaly/brachycephaly, and neonatal intensive care unit-associated skill deformation, known as NICUcephaly) that do not.
The report ends with a brief discussion of microcephaly as it relates to craniosynostosis as well as fontanelle closure.
 
The intent is to improve pediatric care providers’ recognition and timely referral for craniosynostosis and their differentiation of synostotic from deformational and other nonoperative head shape changes.
 
 
 
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