{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T12:38:54Z","timestamp":1791463134137,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4505,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report on a \u201cnew\u201d severe short\u2010limb bone dysplasia which can be labeled descriptively a spondylo\u2010meta\u2010epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family.<\/jats:p>\n                  <jats:p>Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro\/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied.<\/jats:p>\n                  <jats:p>Consanguinity is present in 1 family. In addition to the described patient, 2 other short\u2010limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450308","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:22:10Z","timestamp":1118492530000},"page":"320-326","source":"Crossref","is-referenced-by-count":41,"title":["Spondylo\u2010meta\u2010epiphyseal dysplasia (SMED), short limb\u2010hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology"],"prefix":"10.1002","volume":"45","author":[{"given":"Zvi","family":"Borochowitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Leonard O.","family":"Langer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen E.","family":"Gruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariassa Bat\u2010Miriam","family":"Katznelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80113-6"},{"key":"e_1_2_1_3_1","unstructured":"International Nomenclature of Constitutional Diseases of Bone (Germany)(1992)Am J Med Genet(in press)."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02390112"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975190"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1988.tb02748.x"},{"key":"e_1_2_1_7_1","unstructured":"LangerL HechtJ ScottC DorstJ HershJ CampbellJ(1988)Spondylo\u2010epiphyseal\u2010metaphyseal dysplasia dominant metatropic type. Heritable Disorders of Connective Tissue and Skeletal Dysplasias. Clinical Genetics Conference Baltimore Maryland. July 10\u201313."},{"key":"e_1_2_1_8_1","first-page":"211","article-title":"Der metatropische Zwergwuchs","volume":"173","author":"Maroteaux P","year":"1966","journal-title":"Arch Kinderheilk"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190117"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975446"},{"key":"e_1_2_1_11_1","first-page":"812","article-title":"Morphologic studies in the skeletal dysplasias: A review","volume":"96","author":"Sillence DO","year":"1979","journal-title":"Am J Pathol"},{"key":"e_1_2_1_12_1","first-page":"30","article-title":"The lethal osteochondrodysplasias","volume":"19","author":"Spranger J","year":"1990","journal-title":"Adv Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T19:02:19Z","timestamp":1698174139000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,2]]}},"alternative-id":["10.1002\/ajmg.1320450308"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450308","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2]]}}}