{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T14:20:33Z","timestamp":1774880433173,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T00:00:00Z","timestamp":1386115200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>The human disorganization syndrome (HDS) is an extremely rare malformation syndrome that presents with a severe pattern of defects affecting different structures.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>We describe a newborn girl presenting with HDS. Her clinical features included a large appendage arising from the right buttock as the only alteration, with size and shape of a lower member\u2010like structure, and a pedicle of the extra limb structure. The surgical observations, the pathological results, evolution up to 6 months of age, and their potential causes are described, as well as a review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>The MRI procedure also detected a multicystic mass located at the presacral region of the pelvis and perineum, without any dysraphism or other medullary anomalies. The X\u2010ray showed that the member\u2010like structure had an iliac wing, femur, tibia, fibula, and aberrant metatarsals. The review of the literature shows disparate defects of the published cases with HDS, which include some features pathogenically not related with this syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>We highlight the need to maintain restricted the clinical diagnosis for HDS to those concordant with a great disorganization of morphogenetic inductions affecting the three germ layers, which occur during the first four weeks of development. This is crucial to: (a) perform a correct diagnosis, which is essential to establish the prognosis and surgery procedures, (b) identify which is\/are the cause\/s, and (c) the adequate genetic counseling.<jats:italic>Birth Defects Research (Part A), 97:781\u2013785, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23203","type":"journal-article","created":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T18:30:08Z","timestamp":1386181808000},"page":"781-785","source":"Crossref","is-referenced-by-count":4,"title":["Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes"],"prefix":"10.1002","volume":"97","author":[{"given":"Oscar Gir\u00f3n","family":"Vallejo","sequence":"first","affiliation":[{"name":"Servicio de Cirug\u00eda Pedi\u00e1trica Hospital Universitario Virgen de la Arrixaca Regi\u00f3n de Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda del Carmen","family":"Ben\u00edtez S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Servicio de Cirug\u00eda Pedi\u00e1trica Hospital Universitario Virgen de la Arrixaca Regi\u00f3n de Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesar Salcedo","family":"C\u00e1novas","sequence":"additional","affiliation":[{"name":"Servicio de Traumatolog\u00eda y Ortopedia infantil Hospital Universitario Virgen de la Arrixaca Regi\u00f3n de Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna D\u00edez","family":"Ontiveros","sequence":"additional","affiliation":[{"name":"Servicio de Cirug\u00eda Pl\u00e1stica Hospital Universitario Virgen de la Arrixaca Regi\u00f3n de Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ignacio","family":"Ruiz Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Servicio de Cirug\u00eda Pl\u00e1stica Hospital Universitario Virgen de la Arrixaca Regi\u00f3n de Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Bermejo\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras (IIER) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) (U724) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[{"name":"CIBER de Enfermedades Raras (CIBERER) (U724) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"Departamento de Farmacolog\u00eda Facultad de Medicina Universidad Complutense de Madrid Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.4.2235"},{"key":"e_1_2_6_3_1","first-page":"866","article-title":"Two\u2010hit model for sporadic congenital anomalies in mice with the disorganization mutation","volume":"52","author":"Crosby JL","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","first-page":"9","article-title":"Disorganization syndrome: characteristics and description of the first case registered by ECEMC [S\u00edndrome de Desorganizaci\u00f3n: caracter\u00edsticas y descripci\u00f3n del primer caso registrado en el ECEMC]","volume":"5","author":"Gonz\u00e1lez de 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