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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Diaz Escagedo, Patricia Fiscaletti, Melissa Olivier, Patricia Hudon, Chloé Miranda, Valancy Miron, Marie-Claude Campeau, Philippe M. Alos, Nathalie |
| 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. |
| Related Links | https://bmcpediatr.biomedcentral.com/counter/pdf/10.1186/s12887-021-02716-x.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712431 |
| DOI | 10.1186/s12887-021-02716-x |
| Journal | BMC Pediatrics |
| Issue Number | 1 |
| Volume Number | 21 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2021-05-22 |
| Access Restriction | Open |
| Subject Keyword | Pediatrics Internal Medicine Metaphyseal anadysplasia Regressive course Rickets mimicking presentation disease Autosomal dominant variant |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Pediatrics, Perinatology and Child Health |
| Journal Impact Factor | 2/2023 |
| 5-Year Journal Impact Factor | 2.4/2023 |
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