Hypophosphatemic rickets and craniosynostosis: a multicenter case series

Area of Science:

• Craniofacial Surgery
• Pediatric Endocrinology
• Genetics

Background:

• Secondary craniosynostosis can arise from postnatal metabolic or mechanical factors.
• Hypophosphatemic rickets is a common metabolic cause of secondary craniosynostosis.
• This condition presents with diverse craniofacial anomalies and varying etiologies.

Purpose of the Study:

• To characterize the clinical course of hypophosphatemic rickets with secondary craniosynostosis.
• To identify associated craniofacial anomalies and treatment outcomes.
• To optimize management recommendations through literature review.

Main Methods:

• Retrospective review of 20 years of patient data from three major craniofacial centers.
• Analysis of patient demographics, suture involvement, rickets etiology, symptoms, and surgical interventions.
• Literature review to inform treatment recommendations.

Main Results:

• Ten patients (8 males, 2 females) aged 1-9 years were identified.
• The sagittal suture was most frequently affected (6/10).
• Etiologies included antacid-induced, autosomal dominant, and X-linked hypophosphatemic rickets (XLH). Nine patients had cranial vault remodeling (CVR) surgery; three had elevated intracranial pressure (ICP), and three had Chiari Type I malformation.

Conclusions:

• Secondary craniosynostosis due to hypophosphatemic rickets presents later and more heterogeneously than primary craniosynostosis.
• Cranial vault remodeling (CVR) may be necessary to manage elevated intracranial pressure (ICP) and cranial vault abnormalities.
• Prompt referral of children with hypophosphatemic rickets and head shape changes to craniofacial specialists is recommended.