{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T18:15:36Z","timestamp":1761848136190,"version":"build-2065373602"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0041_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      <jats:italic>MMP13<\/jats:italic>\n                      -related metaphyseal dysplasia Spahr type, is an extremely rare skeletal disorder, and only a dozen patients with a confirmed molecular diagnosis have been reported. It is characterized by mild short stature, genu varum, and metaphyseal irregularities including fraying, splaying, and cupping of the long bones. The disorder is in the differential diagnosis of rickets, a relatively common disorder in childhood that shares similar clinical and radiological features with metaphyseal dysplasia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0041_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Herein, we present a 39-month-old girl patient who was initially evaluated for rickets due to mild short stature, bowing of the lower extremities, and metaphyseal changes. Biochemical tests including calcium, phosphate, alkaline phosphatase, and vitamin D levels were all within normal ranges. Radiographies revealed advanced bone age, mildly enlarged epiphyses, wide and irregular metaphyses of the long tubular bones, mildly thickened long tubular bones, and coxa vara. Clinical exome sequencing identified a homozygous variant in the\n                      <jats:italic>MMP13<\/jats:italic>\n                      gene, confirming the diagnosis of metaphyseal dysplasia Spahr type.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0041_abs_902\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We emphasize that metaphyseal dysplasias mimic the clinical and radiographic features of rickets and play a significant role in the differential diagnoses, particularly in patients presenting with short stature, genu varum, and metaphyseal irregularities, despite the absence of biochemical abnormalities. In accordance with the Nosology of Genetic Skeletal Disorders: 2023 Revision, we reinforce the dyadic naming system for the two groups of\n                      <jats:italic>MMP13<\/jats:italic>\n                      -related metaphyseal dysplasia, differentiated solely by their inheritance patterns, which also exhibit consistency with the location of the variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0041","type":"journal-article","created":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T20:07:11Z","timestamp":1749845231000},"page":"1241-1246","source":"Crossref","is-referenced-by-count":0,"title":["MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9316-9910","authenticated-orcid":false,"given":"Abdulkerim","family":"Kolkiran","sequence":"first","affiliation":[{"name":"Department of Paediatric Genetics , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1493-4352","authenticated-orcid":false,"given":"Tu\u011fba","family":"Da\u015far","sequence":"additional","affiliation":[{"name":"Department of Paediatric Genetics , Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"key":"2025103018011139899_j_jpem-2025-0041_ref_001","unstructured":"Dahash, BA, Sankararaman, S. Rickets. [Updated 2023 Aug 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK562285\/."},{"key":"2025103018011139899_j_jpem-2025-0041_ref_002","doi-asserted-by":"crossref","unstructured":"Haffner, D, Leifheit-Nestler, M, Grund, A, Schnabel, D. Rickets guidance: part I-diagnostic workup. Pediatr Nephrol 2022;37:2013\u201336. https:\/\/doi.org\/10.1007\/s00467-021-05328-w.","DOI":"10.1007\/s00467-021-05328-w"},{"key":"2025103018011139899_j_jpem-2025-0041_ref_003","doi-asserted-by":"crossref","unstructured":"Unger, S, Ferreira, CR, Mortier, GR, Ali, H, Bertola, DR, Calder, A, et al.. Nosology of genetic skeletal disorders: 2023 revision. 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Am J Med Genet 2008;146A:1865\u201370. https:\/\/doi.org\/10.1002\/ajmg.a.32390.PMID:18553549.","DOI":"10.1002\/ajmg.a.32390"},{"key":"2025103018011139899_j_jpem-2025-0041_ref_009","doi-asserted-by":"crossref","unstructured":"\u00d6zdemir Uslu, Z, Murato\u011flu \u015eahin, N, Ak\u0131n, A, Tunca K\u00fc\u00e7\u00fckali, ET, \u00c7etinkaya, S. Metaphyseal dysplasia, Spahr type: 12-year follow-up, ESPE2023\/poster. Horm Res Paediatr 2023;96:1\u2013643. https:\/\/doi.org\/10.1159\/000533803.","DOI":"10.1159\/000533803"},{"key":"2025103018011139899_j_jpem-2025-0041_ref_010","doi-asserted-by":"crossref","unstructured":"Li, D, Weber, DR, Deardorff, MA, Hakonarson, H, Levine, MA. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. Eur J Hum Genet 2015;23:264\u20136. https:\/\/doi.org\/10.1038\/ejhg.2014.76.","DOI":"10.1038\/ejhg.2014.76"},{"key":"2025103018011139899_j_jpem-2025-0041_ref_011","doi-asserted-by":"crossref","unstructured":"Lausch, E, Keppler, R, Hilbert, K, Cormier-Daire, V, Nikkel, S, Nishimura, G, et al.. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet 2009;85:168\u201378. https:\/\/doi.org\/10.1016\/j.ajhg.2009.06.014.","DOI":"10.1016\/j.ajhg.2009.06.014"},{"key":"2025103018011139899_j_jpem-2025-0041_ref_012","doi-asserted-by":"crossref","unstructured":"Stura, EA, Visse, R, Cuniasse, P, Dive, V, Nagase, H. Crystal structure of full-length human collagenase 3 (MMP-13) with peptides in the active site defines exosites in the catalytic domain. 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