{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:29:12Z","timestamp":1761647352372},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4693,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Weissenbacher\u2010Zweym\u00fcller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch\u2010up growth after 2\u20133 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyscal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430616","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:52:08Z","timestamp":1118551928000},"page":"989-995","source":"Crossref","is-referenced-by-count":12,"title":["Weissenbacher\u2010Zweym\u00fcller syndrome: A distinct autosomal recessive skeletal dysplasia"],"prefix":"10.1002","volume":"43","author":[{"given":"Juan","family":"Chemke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rivka","family":"Carmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aharon","family":"Galil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaakov","family":"Bar\u2010Ziv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilan","family":"Ben\u2010Ytzhak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loretta","family":"Zurkowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270208"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.1.34"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.553"},{"key":"e_1_2_1_5_1","first-page":"591","article-title":"Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)","volume":"46","author":"Cohn HD","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973533"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00497678"},{"key":"e_1_2_1_8_1","first-page":"481","article-title":"Nanisme microm\u00e9lique non achondroplastique associ\u00e9 \u00e0 un syndrome de Pierre Robin","volume":"24","author":"Ducas P","year":"1967","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1989.tb01120.x"},{"key":"e_1_2_1_10_1","first-page":"361","article-title":"Oto\u2010spondylo\u2010megaepiphyseal dysplasia (OSMED)","volume":"37","author":"Giedion A","year":"1982","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120290054010"},{"key":"e_1_2_1_12_1","first-page":"355","article-title":"Somatic mosaicism: Observations related to clinical genetics","volume":"43","author":"Hall JG","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.125.4.936"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80063-1"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110113"},{"key":"e_1_2_1_16_1","first-page":"681","article-title":"Genetic linkage analysis of hereditary arthro\u2010ophthalmopathy (Stickler syndrome) and the type II procollagen gene","volume":"45","author":"Knowlton RG","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","first-page":"2371","article-title":"Le nanisme micrognathe","volume":"78","author":"Maroteaux P","year":"1970","journal-title":"Presse Med"},{"key":"e_1_2_1_18_1","volume-title":"Bone Diseases of Children","author":"Maroteaux P","year":"1979"},{"key":"e_1_2_1_19_1","first-page":"5","article-title":"Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias","volume":"45","author":"Murray LW","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","first-page":"139","article-title":"Nanisme chondrodystrophique et division palatine ch\u011bz un nouveau\u2010n\u00e9","volume":"19","author":"Rolland JC","year":"1972","journal-title":"Ann Pediatr (Paris)"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410113"},{"key":"e_1_2_1_22_1","first-page":"315","article-title":"Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie","volume":"112","author":"Weissenbacher G","year":"1964","journal-title":"Monatsschr Kinderheilk"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160209"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430616","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430616","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T10:53:36Z","timestamp":1698058416000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,8]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,8]]}},"alternative-id":["10.1002\/ajmg.1320430616"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430616","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,8]]}}}