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Article

Imaging patterns in pediatric hypophosphatasia.

Pediatric radiology - 1 May 2022

Mannes Inès, Rothenbuhler Anya, Merzoug Valérie, Di Rocco Federico, Linglart Agnès, Adamsbaum Catherine

Abstract excerpt

Hypophosphatasia is a rare genetic disorder of calcium and phosphate metabolism due to ALPL gene mutations, which leads to abnormal mineralization of the bones and teeth. Hypophosphatasia is characterized by low serum alkaline phosphatase activity and a number of clinical signs, including failure to thrive, bone pain and dental issues. The diagnosis is suspected based on clinical, laboratory and imaging findings...

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PMID: 34854966
DOI: 10.1007/s00247-021-05232-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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