Craniofrontonasal dysplasia: A surgical treatment algorithm

Background: Craniofrontonasal dysplasia is a rare, familial X-linked syndrome with coronal synostosis (brachycephaly or plagiocephaly), hypertelorbitism (frequently asymmetric), and extracranial anomalies. Details of the timing and technique of the craniofacial correction have not been well described. The largest series of patients with craniofrontonasal dysplasia treated at a single institution was used for review. Methods: A review of patients at the University of California, Los Angeles Craniofacial Clinic with the diagnosis of craniofrontonasal dysplasia was performed (n = 21). Data included office, hospital, and operative records; photographs; lateral cephalograms; and three-dimensional computed tomographic scans. Based on surgical outcomes, a treatment algorithm was created. Results: Fourteen patients were female, seven were male, and five had a family history of craniofrontonasal dysplasia (24 percent). Eight patients had unilateral coronal synostosis (plagiocephaly) and 13 had bilateral coronal synostosis (brachycephaly). Eleven patients had asymmetric hypertelorbitism and 10 had symmetric hypertelorbitism. Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry flizzy hair (100 percent), syndactyly (14 percent), and nail (100 percent) or other anomalies. After fronto-orbital advancement, no patients had increased intracranial pressure problems or difficulty related to resynostosis. After hypertelorbitism correction, three patients relapsed. Because of this, correction in later patients was delayed until after eruption of permanent maxillary incisors. The mean anterior interorbital distance was reduced in patients from 184 percent to 98 percent of sex-matched controls. Conclusions: The phenotypic expression of craniofrontonasal dysplasia is described to recognize patients early. A treatment algorithm for craniofrontonasal dysplasia based on timing and technique is offered to decrease the need for revision and improve outcomes.