Importance: As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for surgical planning and overview of this challenging syndrome.
Objectives: The phenotypic characteristics of CS are diverse, and the molecular underpinnings are equally complex. To date, the surgical management of this syndrome has not been fully elucidated, with only a number of selected case studies illustrating proper approach to treatment. This article summarizes treatment approaches from selected CS literature, analyzes craniofacial reconstruction techniques used in related syndromes, and discusses their possible role in CS.
Design: Articles from 1901 to 2013 were selected and reviewed by 5 researchers using the most recent literature of the genetics, pathophysiology, phenotype, and management of CS.
Results: Mutations in RAB23 have been implicated in the pathogenesis of CS. The RAB23 is a small, 35.43-kb gene with 1 noncoding and 6 coding regions that encode a guanosine triphosphatase responsible for regulating intracellular vesicular trafficking. Given the scarcity of CS cases, an algorithm for CS management has not been established. However, early release of craniosynostoses with fronto-orbital advancement is clearly indicated in the CS literature, particularly in cases of elevated intracranial pressure. Management of other craniofacial malformations is less clear. Literature from other craniofacial syndromes, including Apert syndrome and craniofacial microsomia, was helpful in establishing a putative timeline for craniofacial intervention.
Conclusions: This study collates surgical management data from CS and other related syndromes as a means of establishing a cohesive approach to the surgical treatment of CS.