{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:12:28Z","timestamp":1790651548606,"version":"4.1.0"},"reference-count":3,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n \n We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Skeletal radiographies show platyspondyly and characteristic vertebral body shape with central indentation of endplates, progressive, and severe metaphyseal changes, very small and irregular proximal femoral epiphyses with severe coxa vara, absence of calcifications, and mild metaphyseal irregularities in upper limbs.<\/jats:p>\n \n The similarities in the skeletal radiographs with SEMD type Strudwick and SEMD matrilin 3 type prompted us to analyze the\n COL2A1<\/jats:italic>\n and\n MATN3<\/jats:italic>\n genes. Direct sequencing of genomic DNA failed to identify any mutation in\n COL2A1<\/jats:italic>\n for both patients and\n MATN3<\/jats:italic>\n sequencing for Patient 1 identified only one heterozygous variant with no predicted damaging effect inherited from an unaffected parent. We therefore conclude that this form of SEMD probably differs from SEMD matrilin 3 type and does not belong to the spectrum of type II collagenopathies. The similarities between our two patients allowed us to propose that they might show a new form of SEMD. \u00a9 2013 Wiley Periodicals, Inc.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ajmg.a.36132","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T13:33:03Z","timestamp":1376659983000},"page":"2645-2651","source":"Crossref","is-referenced-by-count":12,"title":["A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization"],"prefix":"10.1002","volume":"161","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"},{"name":"INSERM UMR\u2010S 957 Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo\u00efc","family":"Geffroy","sequence":"additional","affiliation":[{"name":"Service d'Orthop\u00e9die P\u00e9diatrique CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beno\u00eet","family":"de Courtivron","sequence":"additional","affiliation":[{"name":"Service de Chirurgie Orthop\u00e9dique P\u00e9diatrique CHU de Tours Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian T.","family":"Thiel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Erlangen\u2010Nuremberg Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Antwerp University Hospital and University of Antwerp Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33016"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30145"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36132","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36132","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T19:00:20Z","timestamp":1696618820000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,16]]},"references-count":3,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/ajmg.a.36132"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36132","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,16]]}}}