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Updated: Nov 1, 2025

Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis
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Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis

Published on: April 1, 2022

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Hereditary hypophosphatemic rickets and craniosynostosis

María Alejandra Arenas1, Sebastián Jaimovich2, Natalia Perez Garrido3

  • 1Department of Growth and Development, Garrahan Hospital, City of Buenos Aires, Argentina.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|June 19, 2021
PubMed

Insights

Craniosynostosis is an underdiagnosed complication of hypophosphatemic rickets. Early diagnosis and a multidisciplinary approach are crucial for managing affected children, even those with normal head size.

Area of Science:

  • Pediatric Endocrinology
  • Craniofacial Surgery
  • Medical Genetics

Background:

  • Hypophosphatemic rickets (HPR) is a rare genetic disorder affecting phosphate metabolism.
  • Craniosynostosis, premature fusion of skull sutures, is an underrecognized complication of HPR.
  • This study investigates the clinical characteristics and outcomes of HPR patients with craniosynostosis.

Purpose of the Study:

  • To describe the clinical and auxological features of children with HPR and craniosynostosis.
  • To outline the typical treatment strategies employed for this combined condition.
  • To compare these characteristics with HPR patients lacking craniosynostosis.

Main Methods:

  • An observational, retrospective cohort study design was utilized.
  • Data were collected from clinical notes and cranial imaging of 96 children with HPR.
  • Fifty patients with available skull images were included for analysis.

Main Results:

  • Craniosynostosis was identified in 52% (26/50) of the HPR cohort.
  • No significant differences in growth parameters or biochemical markers were found between groups.
  • Dolichocephaly and isolated scaphocephaly were the most common presentations, affecting sagittal suture fusion.

Conclusions:

  • Craniosynostosis is a frequent, yet often missed, complication in pediatric hypophosphatemic rickets.
  • Early recognition is vital, as some patients present with normal head circumference, necessitating vigilance.
  • A multidisciplinary team approach is essential for optimal diagnosis and long-term management.
Abstract

Keywords:
craniosynostosisgrowthhead circumferencehypophosphatemic rickets

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