{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:54:28Z","timestamp":1777884868534,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:p>In 1981, Casamassima and colleagues described an autosomal recessive syndrome of spondylocostal dysostosis associated with anal and urogenital anomalies. Here, I describe 1 new fetus who presented with Limb\u2013Body wall defect as a novel association, compile 7 patients, and review the clinical phenotype of Casamassima-Morton-Nance syndrome. This appears to be the 1st Casamassima-Morton-Nance syndrome fetus with this complex malformation. In light of this manifestation, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with significant clinical variability. Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and vertebral anomalies and scoliosis (spondylocostal-like pattern), anal atresia, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set\/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.<\/jats:p>","DOI":"10.2350\/15-08-1682-cr.1","type":"journal-article","created":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T17:50:03Z","timestamp":1442253003000},"page":"159-164","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Fetus with Casamassima-Morton-Nance Syndrome and Limb\u2013Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype"],"prefix":"10.1177","volume":"19","author":[{"given":"Victor M.","family":"Salinas-Torres","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica, Hospital General de Tijuana ISESALUD, Baja California, M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,4,1]]},"reference":[{"key":"bibr1-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080114"},{"key":"bibr2-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<514::AID-AJMG15>3.0.CO;2-0"},{"key":"bibr3-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.08.001"},{"key":"bibr4-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2168"},{"key":"bibr5-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2688"},{"key":"bibr6-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991119)87:2<115::AID-AJMG2>3.0.CO;2-1"},{"key":"bibr7-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34161"},{"key":"bibr8-15-08-1682-CR.1","volume-title":"Embryos, Genes and Birth Defects","author":"Ferretti P","year":"2006","edition":"2"},{"key":"bibr9-15-08-1682-CR.1","unstructured":"Salinas-Torres VM. Congenital hemangioma in spondylocostal dysostosis: A novel association. An Bras Dermatol In press."},{"key":"bibr10-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1975.tb04673.x"},{"key":"bibr11-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.241.421"},{"key":"bibr12-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-014-1493-5"},{"key":"bibr13-15-08-1682-CR.1","doi-asserted-by":"crossref","unstructured":"Salinas-Torres VM. Syringomyelia in VACTERL-H association: A new neurological feature in an adult patient. Acta Neurol Belg 2015; doi:10.1007\/s13760-015-0513-1.","DOI":"10.1007\/s13760-015-0513-1"},{"key":"bibr14-15-08-1682-CR.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2012.11.003"},{"key":"bibr15-15-08-1682-CR.1","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.5546\/aap.2012.e67","volume":"110","author":"Salinas-Torres VM","year":"2012","journal-title":"Arch Argent Pediatr"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/15-08-1682-CR.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.2350\/15-08-1682-CR.1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/15-08-1682-CR.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:41:24Z","timestamp":1777603284000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.2350\/15-08-1682-CR.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.2350\/15-08-1682-CR.1"],"URL":"https:\/\/doi.org\/10.2350\/15-08-1682-cr.1","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3]]}}}