The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets

  • Keun Soo Lee
  • Bo Lyun LeeEmail author
Case Report



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.


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.


Craniosynostosis X-linked hypophosphatemic rickets PHEX 


Funding information

This work was supported by a 2018 Inje University research grant.

Compliance with ethical standards

Conflict of interest

The authors declare no potential conflicts of interest with respect to the research, authorship, or publication of this article.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Neurosurgery, Busan Paik HospitalInje University College of MedicineBusanSouth Korea
  2. 2.Division of Pediatric Neurology, Department of Pediatrics, Busan Paik HospitalInje University College of MedicineBusanSouth Korea

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