{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T09:10:06Z","timestamp":1698225006081},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4857,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a form of multiple epiphyseal dysplasia with striking acromelic shortness in a woman and five of her ten children. The somatometric and metacarpo\u2010phalangeal pattern profile of the affected individual showed short limb dwarfism and shortness of all the tubular bones of the hand. Epiphyseal irregularities and shortness of the 4th metatarsal bones were outstanding. The disorder showed a dominant and probably autosomal pattern of inheritance with variability of expression.<\/jats:p><jats:p>The measurement of metacarpo\u2010phalangeal profiles allowed an objective and quantitative assessment of brachydactyly. In the family reported here, there was a clear discrepancy between the severity of shortness of hands and feet and the severity of shortness of stature. This family also illustrates the effects of a single gene in a large kindred, therefore describing the range and variability of a phenotype not otherwise available.<\/jats:p>","DOI":"10.1002\/ajmg.1320420402","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:39:44Z","timestamp":1118497184000},"page":"415-419","source":"Crossref","is-referenced-by-count":4,"title":["Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia"],"prefix":"10.1002","volume":"42","author":[{"given":"Teresa","family":"Villarreal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Carnevale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dora Gilda","family":"May\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ra\u00fal","family":"Takenaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"del Castillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18003413502"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_1_4_1","volume-title":"Catalogs of autosomal dominant, autosomal recessive and X linked phenotypes","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.236.23.2629"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"814","DOI":"10.2106\/00004623-197355040-00016","article-title":"Multiple epiphyseal dysplasia, report of a pedigree","volume":"55","author":"Murphy Mc","year":"1973","journal-title":"J Bone Joint Surg"},{"issue":"1","key":"e_1_2_1_7_1","article-title":"Somatometria Pedi\u00e1trica. Estudio semilongitudianal en ni\u00f1os de la ciudad de M\u00e9xico","volume":"6","author":"Ramos Galv\u00e1n R","year":"1975","journal-title":"Arch Invest Med"},{"key":"e_1_2_1_8_1","volume-title":"Assessment of Skeletal Maturity and Prediction of Adult Height (TW2 Method)","author":"Tanner JM","year":"1975"},{"key":"e_1_2_1_9_1","first-page":"19","volume-title":"Atlas of Skeletal Dysplasias","author":"Wynne\u2010Davies R","year":"1985"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420402","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420402","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T07:09:13Z","timestamp":1698131353000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2,15]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,2,15]]}},"alternative-id":["10.1002\/ajmg.1320420402"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420402","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2,15]]}}}