{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T01:13:02Z","timestamp":1648861982027},"reference-count":10,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T00:00:00Z","timestamp":1627257600000},"content-version":"vor","delay-in-days":1029,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian Journal of Radiology and Imaging"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. In addition to the skeletal abnormalities, hydrocephalus, hydronephrosis, and congenital heart disease have been reported. We describe a preterm neonate who presented with respiratory failure and clinical features of CD. Our case had only 10 pairs of ribs, and to the best of our knowledge this is the first case report of CD with 10 pairs of ribs.<\/jats:p>","DOI":"10.4103\/ijri.ijri_173_18","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T10:46:01Z","timestamp":1545302761000},"page":"456-459","source":"Crossref","is-referenced-by-count":0,"title":["Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report"],"prefix":"10.1055","volume":"28","author":[{"given":"Laxman","family":"Basani","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Dolphin Children\u2019s Hospital, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roja","family":"Aepala","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Dolphin Children\u2019s Hospital, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naresh","family":"Macha","sequence":"additional","affiliation":[{"name":"Departments of Radiology, Dolphin Children\u2019s Hospital, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,7,26]]},"reference":[{"key":"ref1","first-page":"694","volume-title":"Campomelic dysplasia","author":"H Taybi","year":"1990","edition":"3rd ed"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.1320150103","article-title":"The campomelic syndrome: Review, report of 17 cases, and follow up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971","volume":"15","author":"C S Houston","year":"1983","journal-title":"Am Med Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.gendis.2014.09.004","article-title":"The versatile functions of Sox9 in development, stem cells, and human diseases","volume":"1","author":"A Jo","year":"2014","journal-title":"Genes Dis"},{"key":"ref4","first-page":"1157","article-title":"The campomelic syndrome","volume":"79","author":"P Maroteaux","year":"1971","journal-title":"Presse Med"},{"key":"ref5","first-page":"344","volume-title":"Smith\u2019s Recognizable patterns of Human Malformation","author":"K L Jones","year":"1997","edition":"5th ed"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31483","article-title":"The Nosology Group of the International Skeletal Dysplasia Society. International Nosology and Classification of Skeletal Disorders F2006 Revision","volume":"143A","author":"A Superti-Furga","year":"2007","journal-title":"Am J Med Genet A"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/8792","article-title":"Sox9 is required for cartilage formation","volume":"22","author":"W Bi","year":"1999","journal-title":"Nat Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng0697-174","article-title":"SOX9 directly regulates the type-II collagen gene","volume":"16","author":"D M Bell","year":"1997","journal-title":"Nat Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0092-8674(94)90041-8","article-title":"Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9","volume":"79","author":"T Wagner","year":"1994","journal-title":"Cell"},{"key":"ref10","volume-title":"Prenatal diagnosis of congenital anomalies","author":"R Romero","year":"1988"}],"container-title":["Indian Journal of Radiology and Imaging"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.4103\/ijri.IJRI_173_18.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T22:49:42Z","timestamp":1627339782000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.4103\/ijri.IJRI_173_18"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":10,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2021,7,26]]},"published-print":{"date-parts":[[2018,10]]}},"URL":"https:\/\/doi.org\/10.4103\/ijri.ijri_173_18","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0971-3026","1998-3808"],"issn-type":[{"value":"0971-3026","type":"print"},{"value":"1998-3808","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10]]}}}