Phillip Jaszczuk1, Gary F Rogers2, Raphael Guzman3, Mark R Proctor4. 1. Department of Neurosurgery, Division of Pediatric Neurosurgery, University Childrens Hospital Basel, Basel, Switzerland. 2. Division of Plastic and Reconstructive Surgery, Children's National Medical Center, Washington, DC, USA. 3. Department of Neurosurgery, Division of Pediatric Neurosurgery, University Childrens Hospital Basel, Basel, Switzerland. raphael.guzman@usb.ch. 4. Department of Neurosurgery, Children's Hospital Boston, Boston, MA, USA.
Abstract
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.
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.
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