ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2019
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.Acta neurochirurgica · 2026Pooled it
- X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- Continuation of burosumab during pregnancy in a patient with X-linked hypophosphatemia.JCEM case reports · 2026Article
- Multisuture craniosynostosis and acquired Chiari malformation secondary to vitamin D deficiency rickets: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- A novel phex gene variant causes non-syndromic tooth agenesis.BMC oral health · 2025Article
- Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.The Journal of clinical endocrinology and metabolism · 2025Article
- The Diagnosis and Therapy of XLH.Calcified tissue international · 2025Review
- Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes.Orphanet journal of rare diseases · 2025Article
- Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.Calcified tissue international · 2025Article
- A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia.Frontiers in health services · 2025Review
- X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia.Bone reports · 2024Article
- Isolated Sagittal Craniosynostosis: A Comprehensive Review.Diagnostics (Basel, Switzerland) · 2024Review
- Lower limb maltorsion and acetabular deformity in children and adolescents with X-linked hypophosphatemia.Frontiers in endocrinology · 2024Article
- X-linked hypophosphatemic rickets: from diagnosis to management.Clinical and experimental pediatrics · 2024Article
- X-linked hypophosphatemia, fibroblast growth factor 23 signaling, and craniosynostosis.Experimental biology and medicine (Maywood, N.J.) · 2023Review
- XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).Orphanet journal of rare diseases · 2023Article
- The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.Orphanet journal of rare diseases · 2023Article
- Review
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8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation, have been observed in children with XLHR, their actual incidence and characteristics are not established. The aims of this study were to analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in children with XLHR and describe its features. This is a retrospective study of CT scans of the head and skull in 44 XLHR children followed at the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism. Forty-four children with XLHR, 15 boys and 29 girls, aged 8.7 ± 3.9 years at time of CT scan, were studied. We found that 59% of XLHR children had a complete or partial fusion of the sagittal suture and 25% of XLHR children showed protrusion of the cerebellar tonsils. A history of dental abscesses was associated with craniosynostosis, and craniosynostosis was associated with abnormal descent of cerebellar tonsils. Only 2 patients showed neurologic symptoms. Four of 44 patients (9%) required neurosurgery. This study highlights that sagittal suture fusion and Chiari type I malformation are frequent complications of XLHR. The incidence of sagittal synostosis in XLHR is actually extremely high and was probably underestimated so far. Chiari type I malformation is also frequent. Because diagnosis of craniovertebral anomalies can be underestimated on a purely clinical basis, radiological studies should be considered in XLHR children if a proper diagnosis is warranted. © 2018 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals, Inc.
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