{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:29:02Z","timestamp":1770823742229,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8069,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case.<\/jats:p><jats:p>Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.<\/jats:p>","DOI":"10.1002\/ajmg.1320150107","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:40:53Z","timestamp":1118504453000},"page":"57-65","source":"Crossref","is-referenced-by-count":24,"title":["Brachymesomelia\u2010renal syndrome"],"prefix":"10.1002","volume":"15","author":[{"suffix":"Jr.","given":"Leonard O.","family":"Langer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikio","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimoto","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Ueke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Togari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enid F.","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Spranger","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":"10.1136\/adc.40.213.455"},{"key":"e_1_2_1_3_1","first-page":"9","article-title":"Morphology of inherited renal developmental abnormalities","volume":"6","author":"Bernstein J","year":"1970","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","volume-title":"Malformation Syndromes","author":"Bernstein J","year":"1973"},{"issue":"7","key":"e_1_2_1_4_2","first-page":"35","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","first-page":"117","volume-title":"Perspective. 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