X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review

PURPOSE: A defect in a phosphate-regulating gene leads to the most common form of rickets: X-linked hypophosphatemic rickets (XLH) or vitamin D-resistant rickets (VDDR). XLH has been associated with craniosynostosis, the sagittal suture being the most commonly involved. METHODS: We present three patients with rickets and symptomatic sagittal suture craniosynostosis all of whom presented late (<2 years of age). Two had a severe phenotype and papilledema, while the third presented with an osseous bulging near the anterior fontanel and experienced chronic headaches. RESULTS: All underwent successful cranial vault expansion. CONCLUSIONS: Rachitic patients with scaphocephaly should be screened for craniosynostosis.