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Craniofacial Malformations

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Textbook of Plastic and Reconstructive Surgery

Abstract

Craniofacial malformations are relatively rare congenital disorders. They represent a complex subject and require a multidisciplinary specialized approach.

The clinical presentation includes isolated defects, sequences, and syndromes. These different groups of disorders include complex syndromes marked by multiple sutural fusions (e.g., Crouzon, Saethre–Chotzen, and Apert syndromes), better-known anomalies (e.g., cleft lip and palate, simple craniosynostosis, and craniofacial microsomia), and other different types of congenital defects for which diagnosis is more difficult. This vast array of dysmorphism involves abnormalities of craniofacial development that vary from minor to major morpho-functional anomalies of the facial features and the skull.

Systems of classification have been arbitrary or could not be standardized because of an extreme clinical variability and a spectrum of severity. Tessier, in 1976, presented a devised classification system in which a number is assigned to the site of each facial cleft (including bone and soft tissues defects), based on its relationship to the sagittal midline. This descriptive system has become widely accepted because of the ease of recording, communication, and correlation between clinical appearance with practical surgical anatomy.

The most common craniofacial malformations are cleft lip and palate, craniofacial microsomia, and craniosynostosis. The remaining craniofacial anomalies (e.g., craniofacial cleft and craniofacial syndromes) have very low rates of occurrence.

An appropriate surgical correction is fundamental for a normal social life and interaction. Indeed, whatever the deformity, it has a significant potential for psychological frustration among the entire family, with the patient emotional insecurity and parents deep guilt feelings.

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Zama, M., Rizzo, M.I. (2022). Craniofacial Malformations. In: Maruccia, M., Giudice, G. (eds) Textbook of Plastic and Reconstructive Surgery. Springer, Cham. https://doi.org/10.1007/978-3-030-82335-1_12

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  • DOI: https://doi.org/10.1007/978-3-030-82335-1_12

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