The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets
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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.
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.
KeywordsCraniosynostosis X-linked hypophosphatemic rickets PHEX
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.
- 8.Fearon JA (2014) Evidence-based medicine: craniosynostosis. Plast Reconstr Surg 133(5):1261–1275. https://doi.org/10.1097/prs.0000000000000093
- 9.Willis FR, Beattie TJ (1997) Craniosynostosis in X-linked hypophosphataemic rickets. J Paediatr Child Health 33(1):78–79Google Scholar
- 10.Rothenbuhler A, Fadel N, Debza Y, Bacchetta J, Diallo MT, Adamsbaum C, Linglart A, Di Rocco F (2018) High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR). J Bone Miner Res 33:1–7. https://doi.org/10.1002/jbmr.3614 CrossRefGoogle Scholar
- 14.Balek L, Gudernova I, Vesela I, Hampl M, Oralova V, Kunova Bosakova M, Varecha M, Nemec P, Hall T, Abbadessa G, Hatch N, Buchtova M, Krejci P (2017) ARQ 087 inhibits FGFR signaling and rescues aberrant cell proliferation and differentiation in experimental models of craniosynostoses and chondrodysplasias caused by activating mutations in FGFR1, FGFR2 and FGFR3. Bone 105:57–66. https://doi.org/10.1016/j.bone.2017.08.016 CrossRefGoogle Scholar
- 15.Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, van’t Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA (2018) Burosumab therapy in children with X-linked hypophosphatemia. N Engl J Med 378(21):1987–1998. https://doi.org/10.1056/NEJMoa1714641 CrossRefGoogle Scholar