The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets
Abstract
Introduction X-linked hypophosphatemic rickets (XLH) can occasionally cause premature fusion of cranial sutures through an increased level of fibroblast growth factor 23 (FGF-23), which leads to the dysregulation of phosphate and vitamin D metabolism. Secondary craniosynostosis has long been considered to present late after XLH has already been diagnosed either clinically or genetically.Case presentation We present observations of a male infant showing sagittal synostosis as the first sign of XLH. Our patient did not show any other skeletal deformities except macrocephaly with a long head shape. There is a family history of genetically unconfirmed hypophosphatemic rickets in his mother. Direct sequencing by genomic polymerase chain reaction revealed that the patient has a large deletion comprising exons 1-3 of the phosphate regulating endopeptidase homolog X-linked (PHEX) gene.Conclusion Our observations suggest that craniosynostosis secondary to rickets can develop in early infancy. Careful monitoring of head shape and growth is therefore critical for early detection of craniosynostosis in XLH.
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In PHEX-related X-linked hypophosphatemic rickets (XLHR), sagittal suture involvement appears strikingly frequent and, in some cohorts, nearly constant.
“This is particularly evident in PHEX-related X-linked hypophosphatemic rickets (XLHR), in which sagittal suture involvement appears strikingly frequent and, in some cohorts, nearly constant [43, 81, 95].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [81]
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Genetics versus environment in the pathophysiology of sagittal synostosis
De Gregorio, V., Tosi, D. D., Vita, A., Salvati, M., Massimi, L., Tamburrini, G., Tiberio, F., & Lattanzi, W. (2026) · Child's Nervous System · doi:10.1007/s00381-026-07396-5 · Cited by 2 · see citing works
“This is particularly evident in PHEX-related X-linked hypophosphatemic rickets (XLHR), in which sagittal suture involvement appears strikingly frequent and, in some cohorts, nearly constant [43, 81, 95].”
- Authors
- Lee, K. S., & Lee, B. L.
- Affiliations
- Inje University (KR)
- Corresponding author
- Lee, Bo Lyun
- Venue
- Child's Nervous System
- Published
- 2019-01-06
- Volume
- 35
- Issue
- 6
- Pages
- 1045-1049
- ISSN
- 0256-7040 (ISSN-L)
- 1433-0350
- OpenAlex
- W2908370455
- Cited by
- 8
- References
- 19
- Citations by year
- 2026: 3 · 2024: 2 · 2023: 2 · 2021: 1
- FWCI
- 0.15
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Child s Nervous System (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Inje University (no number)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Health Sciences › Medicine › Nephrology › Parathyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- X-linked hypophosphatemic rickets, scaphocephaly, craniosynostosis, sagittal synostosis, fibroblast growth factor 23, infants, macrocephaly, phosphate metabolism
- MeSH terms
- Fibroblast Growth Factor-23, Craniosynostoses, Exons, Humans, Infant, Male, Genetic Diseases, X-Linked, Familial Hypophosphatemic Rickets, Republic of Korea
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