{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T21:23:21Z","timestamp":1784755401167,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T00:00:00Z","timestamp":1598572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondyloepiphyseal dysplasia type Stanescu (SED\u2010S) is a very rare type II collagenopathy. We describe an 8\u2010year\u2010old boy who presented with short trunk, C2\u2010C3 vertebral fusion, hand, foot, leg and thigh pain, stiffness and limited joint mobility, and waddling gait. Radiographs showed platyspondyly with anterior wedging and endplate irregularities, broad femoral necks, and large epiphyses and epiphyseal equivalents. Differential diagnosis included progressive pseudorheumatoid dysplasia and SED\u2010S. A skeletal dysplasia custom\u2010designed NGS panel was performed and the heterozygous pathogenic variant c.620G&gt;A; p.(Gly207Glu) in <jats:italic>COL2A1<\/jats:italic> was detected, establishing the diagnosis of SED\u2010S. Vertebral fusions, observed in our patient, have not been previously described in this dysplasia. This variant has not been previously associated with SED\u2010S, but was reported in two other families with spondyloepiphyseal dysplasia. Thus, this case expands the clinical and mutational spectrum of SED\u2010S and demonstrates that SED\u2010S significantly overlaps with other skeletal dysplasias.<\/jats:p>","DOI":"10.1002\/ajmg.a.61817","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T16:35:25Z","timestamp":1598632525000},"page":"2715-2721","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type <scp>II<\/scp> collagenopathy"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4147-2800","authenticated-orcid":false,"given":"Andr\u00e9 M.","family":"Travessa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, Centro Acad\u00e9mico de Medicina de Lisboa  Lisbon Portugal"},{"name":"Institute of Histology and Developmental Biology, Faculty of Medicine University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"D\u00edaz\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz Universidad Auton\u00f3ma de Madrid (UAM), and CIBERER, ISCIII  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE) Hospital Universitario La Paz, UAM  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Mirco","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy and Rehabilitation, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, Centro Acad\u00e9mico de Medicina de Lisboa  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Oliveira\u2010Ramos","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, Centro Acad\u00e9mico de Medicina de Lisboa  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Parr\u00f3n\u2010Pajares","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE) Hospital Universitario La Paz, UAM  Madrid Spain"},{"name":"Department of Radiology Hospital Universitario La Paz, UAM  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz Universidad Auton\u00f3ma de Madrid (UAM), and CIBERER, ISCIII  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE) Hospital Universitario La Paz, UAM  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Berta","family":"Sousa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, Centro Acad\u00e9mico de Medicina de Lisboa  Lisbon Portugal"},{"name":"Laboratory of Basic Immunology, Faculty of Medicine University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.250"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12964"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bip.20958"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2016.02.003"},{"key":"e_1_2_8_6_1","first-page":"1993","volume-title":"GeneReviews","author":"Gregersen P. 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