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X-linked hypophosphatemic rickets: a rare case report.

L Yuan, W Chen, G Li

Acta Orthopaedica Belgica

|March 2, 2026

Summary

This summary is machine-generated.

X-linked hypophosphatemic rickets (XLHR) is a rare genetic disorder. Whole exome sequencing identified a PHEX gene mutation, enabling diagnosis and successful surgical correction of lower limb deformities.

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Area of Science:

Genetics
Orthopedics
Pediatric Endocrinology

Background:

X-linked hypophosphatemic rickets (XLHR) presents diagnostic and therapeutic challenges due to its rarity.
Next-generation sequencing (NGS) is increasingly recommended for diagnosing XLHR and other skeletal dysplasias.

Purpose of the Study:

To report on the diagnosis and treatment experiences of a patient with XLHR.
To highlight the utility of whole exome sequencing (WES) in diagnosing XLHR.
To present a successful surgical intervention for lower limb deformities in XLHR.

Main Methods:

Clinical presentation and laboratory findings of a 17-year-old male with XLHR.
Whole exome sequencing (WES) to identify genetic mutations.
Ilizarov technique combined with multi-segment osteotomy for lower limb deformity correction.

Main Results:

The patient presented with significant lower limb deformity, elevated alkaline phosphatase, and low phosphorus levels.
WES revealed a PHEX gene mutation (NM_000444.6: exon18: c.1853T>G: p.M618R) in the patient and his mother.
Surgical correction resulted in independent ambulation and self-care without complications.

Conclusions:

WES is a valuable tool for diagnosing XLHR by identifying PHEX gene mutations.
Surgical correction using the Ilizarov technique and osteotomy can effectively treat lower limb deformities in XLHR patients.
This case provides a reference for managing XLHR, emphasizing genetic diagnosis and orthopedic intervention.