{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T03:23:43Z","timestamp":1700277823794},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,10,24]],"date-time":"2002-10-24T00:00:00Z","timestamp":1035417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Grebe\u2010Quelce\u2010Salgado chondrodystrophy is an autosomal recessive non\u2010lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage\u2010derived morphogenetic protein\u20101 (<jats:italic>CDMP\u20101<\/jats:italic>). Most cases described in the literature are from Brazil and, among these, all had ancestors from a particular region in the state of Bahia. We describe two cases of Grebe\u2010Quelce\u2010Salgado chondrodystrophy visualized by prenatal ultrasound. The patients presented in this report do not descend from the population of Bahia and, to our knowledge, case two is the only case with prenatal clinical diagnosis in a family with no previously affected children. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10682","type":"journal-article","created":{"date-parts":[[2002,10,30]],"date-time":"2002-10-30T14:19:03Z","timestamp":1035987543000},"page":"193-199","source":"Crossref","is-referenced-by-count":5,"title":["Grebe\u2010Quelce\u2010Salgado chondrodystrophy: Prenatal diagnosis of two new cases in unrelated families in Southern Brazil"],"prefix":"10.1002","volume":"113","author":[{"given":"Mar\u00eda Ver\u00f3nica","family":"Mu\u00f1oz Rojas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds Fl\u00e1vio","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,10,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050155"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.65"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<523::AID-AJMG13>3.0.CO;2-M"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00522.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441580"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80915-2"},{"key":"e_1_2_4_8_1","first-page":"23","article-title":"Die Achondrogenesis: ein einfach rezessives Erbmerkmal","volume":"2","author":"Grebe H","year":"1952","journal-title":"Folia Hered Path"},{"key":"e_1_2_4_9_1","first-page":"173","volume-title":"Atlas of roentgenographic measurement","author":"Keats TE","year":"1985"},{"key":"e_1_2_4_10_1","first-page":"1007","article-title":"Antenatal diagnosis of Grebe syndrome in a twin pregnancy by ultrasound","volume":"32","author":"Kulkarni ML","year":"1995","journal-title":"Indian Pediatr"},{"key":"e_1_2_4_11_1","first-page":"813","volume-title":"Birth defects encyclopedia","author":"Kumar D","year":"1990"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00465.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<107::AID-AJMG1>3.0.CO;2-V"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00217355"},{"key":"e_1_2_4_15_1","first-page":"63","article-title":"A new type of dwarfism with various bone aplasias and hypoplasias of the extremities","volume":"14","author":"Quelce\u2010Salgado A","year":"1964","journal-title":"Acta Genet"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(68)92010-2"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.12.1038"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-58"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10682","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T18:40:14Z","timestamp":1696963214000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10,24]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,11,22]]}},"alternative-id":["10.1002\/ajmg.10682"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10682","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,10,24]]}}}