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Open Access 01-12-2021 | Rickets | Case report

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case

Authors: Patricia Diaz Escagedo, Melissa Fiscaletti, Patricia Olivier, Chloé Hudon, Valancy Miranda, Marie-Claude Miron, Philippe M. Campeau, Nathalie Alos

Published in: BMC Pediatrics | Issue 1/2021

Abstract

Introduction

Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddling gait. But not every child with growth delay and enlarged metaphyses is diagnosed with rickets. Metaphyseal anadysplasia (MAD) is a disorder of variable severity with metaphyseal flaring and irregularities, without vertebral abnormalities. MAD is characterized by an early onset and a regressive course in late childhood without treatment, despite persistent short stature. Autosomal dominant or recessive variants in the matrix metalloproteinase 13 gene (MMP13) are responsible for these transient metaphyseal changes.

Case presentation

We report a new pathogenic heterozygous variant in MMP13 (NM_002427.4: c.216G>C, p.Gln72His) in a toddler, initially thought to have rickets, and his father, with MAD phenotypes. Additionally, we review the seven reported MMP13 variants.

Conclusion

One should keep a wide differential diagnosis in cases of suspected rickets, including skeletal dysplasias which might have a regressive course.

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Title: Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case
Authors: Patricia Diaz Escagedo
Melissa Fiscaletti
Patricia Olivier
Chloé Hudon
Valancy Miranda
Marie-Claude Miron
Philippe M. Campeau
Nathalie Alos
Publication date: 01-12-2021
Publisher: BioMed Central
Keyword: Rickets
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02716-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case

Abstract

Introduction

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

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