Crouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome

Crouzonodermoskeletal syndrome (CDSS) is a rare condition characterized by premature fusion of the coronal sutures, midface hypoplasia, beaked nasal deformity, mandibular prognathism, and proptosis. A specific mutation in the Fibroblast Growth Factor 3 (FGFR3) gene causes CDSS (Ala391Glu) and thus provides a diagnostic marker for early identification. Beyond the Crouzon syndrome-like craniofacial appearance, the CDSS phenotype includes acanthosis nigricans, choanal stenosis/atresia, hydrocephalus, Chiari malformation, and achondroplasia, although presentations vary substantially throughout the literature. In this article, we consolidate and summarize features of previously reported cases of CDSS, and we report the presentation and management of an infant with CDSS at our center. Prior reports of CDSS were sought using a combination of relevant keywords. Selection was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Publications reporting patient-specific data for at least one case of CDSS were included. We identified 74 cases of CDSS among 32 publications from 1985–2023. Most patients were identified at birth with craniofacial abnormalities. Many developed acanthosis nigricans in early childhood. Patients underwent multiple surgeries, including cranial vault reconstruction, cerebrospinal fluid diversion, airway maintenance, and nutrition management. Our patient presented at 4-months-of-age with hydrocephalus, choanal atresia, tracheostomy dependence, proptosis, Chiari malformation, and multi-suture craniosynostosis. Genetic analysis identified the heterozygous FGFR3 Ala391Glu variant diagnostic for CDSS. Over an eleven-month period, he underwent numerous surgeries to address his head shape and associated comorbidities. There was significant variability in clinical presentations, treatments, and outcomes across cases in our review. Early diagnosis of CDSS is essential to anticipate complex medical needs, develop individualized treatment plans, and ultimately to improve patient outcomes. Our review emphasizes the importance of a collaborative, patient-centered approach between plastic surgery, neurosurgery, ophthalmology, otolaryngology, and pediatric general surgery teams to manage the complexities of patients with CDSS.