{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:21:38Z","timestamp":1697656898740},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,16]],"date-time":"2003-06-16T00:00:00Z","timestamp":1055721600000},"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":[[2003,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Metaphyseal chondrodysplasias (MCD) are skeletal disorders characterized by metaphyseal irregularities and, usually, by short stature. In MCD, wide heterogeneity exists with regard to clinical and radiological changes. We report on a patient with clinical and radiological findings of MCD who had coxa valga and normal height with metaphyseal involvement of the long bones. The short radii and ulnae showed a very severe change in their distal metaphyses, leading to mesomelic shortening confined to the upper limbs. Hematological, ophthalmological, and hearing examinations were normal. This type of MCD appears to represent a yet undescribed syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20222","type":"journal-article","created":{"date-parts":[[2003,9,2]],"date-time":"2003-09-02T19:30:11Z","timestamp":1062531011000},"page":"159-163","source":"Crossref","is-referenced-by-count":8,"title":["Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height"],"prefix":"10.1002","volume":"122A","author":[{"given":"Andrea","family":"Camera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianni","family":"Camera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,16]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"106","article-title":"Su un caso di disostosi periferica","volume":"18","author":"Bellini F","year":"1966","journal-title":"Minerva Pediatr"},{"key":"e_1_2_4_3_1","first-page":"365","article-title":"Wedge\u2010shaped epiphyses of the knees in two siblings: A new recessive rare dysplasia?","volume":"39","author":"Bellini F","year":"1984","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_4_4_1","volume-title":"Sindromi dismorfiche e malattie costituzionali dello scheletro","author":"Canepa G","year":"1996"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1212"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180216"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80465-8"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.627"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440606"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02387549"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050463"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390103"},{"key":"e_1_2_4_13_1","first-page":"285","article-title":"Dwarfism in Amish. 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