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X-linked hypophosphatemic rickets and craniosynostosis.
J Craniofac Surg. 2009 Mar; 20(2):439-42.JC

Abstract

Bone mineralization is possible via complex interactions among fibroblast growth factor 23 (FGF23), phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX), and matrix extracellular phosphoglycoprotein. A loss-of-function mutation in PHEX disrupts this interaction leading to hypophosphatemic rickets. X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets, and there have been reports linking XLH rickets to craniosynostosis. A clinical report of a patient with XLH rickets and craniosynostosis is presented with a review of literature. A review of physiology of bone mineralization reveals that, at high levels, there is cross-binding of FGF23 with FGF receptors 2 and 3 at the cranial sutures. This may be the reason for the common association of craniosynostosis and XLH rickets. There are complex interactions of proteins required for mineralization, proteins inhibiting mineralization, bone remodeling, and bone-renal phosphate homeostasis. Clarification of this pathway and reproducibility in a mouse model may pave the way for medical prevention of craniosynostosis in rickets.

Authors+Show Affiliations

Section of Plastic Surgery, Children's National Medical Center, George Washington University, Washington, DC 20010, USA. amurthy@cnmc.org

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

19242361

Citation

Murthy, Ananth S.. "X-linked Hypophosphatemic Rickets and Craniosynostosis." The Journal of Craniofacial Surgery, vol. 20, no. 2, 2009, pp. 439-42.
Murthy AS. X-linked hypophosphatemic rickets and craniosynostosis. J Craniofac Surg. 2009;20(2):439-42.
Murthy, A. S. (2009). X-linked hypophosphatemic rickets and craniosynostosis. The Journal of Craniofacial Surgery, 20(2), 439-42. https://doi.org/10.1097/SCS.0b013e31819b9868
Murthy AS. X-linked Hypophosphatemic Rickets and Craniosynostosis. J Craniofac Surg. 2009;20(2):439-42. PubMed PMID: 19242361.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - X-linked hypophosphatemic rickets and craniosynostosis. A1 - Murthy,Ananth S, PY - 2009/2/27/entrez PY - 2009/2/27/pubmed PY - 2009/8/13/medline SP - 439 EP - 42 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 20 IS - 2 N2 - Bone mineralization is possible via complex interactions among fibroblast growth factor 23 (FGF23), phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX), and matrix extracellular phosphoglycoprotein. A loss-of-function mutation in PHEX disrupts this interaction leading to hypophosphatemic rickets. X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets, and there have been reports linking XLH rickets to craniosynostosis. A clinical report of a patient with XLH rickets and craniosynostosis is presented with a review of literature. A review of physiology of bone mineralization reveals that, at high levels, there is cross-binding of FGF23 with FGF receptors 2 and 3 at the cranial sutures. This may be the reason for the common association of craniosynostosis and XLH rickets. There are complex interactions of proteins required for mineralization, proteins inhibiting mineralization, bone remodeling, and bone-renal phosphate homeostasis. Clarification of this pathway and reproducibility in a mouse model may pave the way for medical prevention of craniosynostosis in rickets. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/19242361/X_linked_hypophosphatemic_rickets_and_craniosynostosis_ L2 - https://doi.org/10.1097/SCS.0b013e31819b9868 DB - PRIME DP - Unbound Medicine ER -