{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T06:54:20Z","timestamp":1773212060094,"version":"3.50.1"},"reference-count":110,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Campomelic dysplasia (CD) is a rare skeletal disorder characterized by the hallmark sign of bent femur or tibial bones or both. Subsequently, patients were identified as having features of CD but lacking the bent limbs. This constellation was later described as acampomelic campomelic dysplasia (ACD). Both CD and ACD are caused by anomalies in the\n                    <jats:italic>SOX9<\/jats:italic>\n                    gene. Historically, CD has a high mortality rate, and ACD patients are often described similarly. Parents may be counseled to consider pregnancy termination or palliative care. This manuscript describes an index patient with ACD who exhibits prolonged survival, along with an extensive literature review. This review shows that roughly 9 out of 10 cases of acampomelic campomelic dysplasia with a genetic diagnosis survive beyond 1\u00a0year of age, most of whom are over 2\u00a0years old. In stark contrast, only approximately 3 out of 10 CD cases with a genetic diagnosis survive infancy. However, this CD number is skewed because survival beyond infancy is 2 in 10 or less for splice-site and nonsense pathologic variants, deletions, and insertions; approximately 4 in 10 cases for missense pathologic variants; and approximately 8 in 10 cases for chromosome 17 structural rearrangements. These findings are of critical importance for patient counseling and perinatal care planning.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1755075","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T09:10:06Z","timestamp":1773133806000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["SOX9 gene anomalies and campomelic \/ acampomelic campomelic dysplasia: case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Craig V.","family":"Towers","sequence":"first","affiliation":[{"name":"High Risk Obstetrical Consultants, University of Tennessee Medical Center","place":["Knoxville, TN, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John T.","family":"Meadows","sequence":"additional","affiliation":[{"name":"Department of Neonatology, University of Tennessee Medical Center","place":["Knoxville, TN, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter T.","family":"Petruzzi","sequence":"additional","affiliation":[{"name":"Department of Radiology, University of Tennessee Medical Center","place":["Knoxville, TN, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelsey L.","family":"Grabeel","sequence":"additional","affiliation":[{"name":"Preston Medical Library \/ Health Information Center, University of Tennessee Health Science Center College of Medicine, Knoxville \/ University of Tennessee Medical Center","place":["Knoxville, TN, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.ajoms.2018.07.007","article-title":"A case of modified furlow palatoplasty applied to a Campomelic dysplasia patient","volume":"31","author":"Amano","year":"2019","journal-title":"J. Oral Maxillofac. Surg. Med. Pathology"},{"key":"B2","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1542\/peds.13.3.257","article-title":"Congenital bowing and angulation of long bones","volume":"13","author":"Angle","year":"1954","journal-title":"Pediatrics"},{"key":"B3","doi-asserted-by":"publisher","first-page":"a002766","DOI":"10.1101\/mcs.a002766","article-title":"A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9","volume":"4","author":"Antwi","year":"2018","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"B4","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1111\/cga.12054","article-title":"Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia","volume":"54","author":"Barone","year":"2014","journal-title":"Congenit. Anom. (Kyoto)."},{"key":"B5","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1002\/pd.2187","article-title":"Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia","volume":"29","author":"Bergeron","year":"2009","journal-title":"Prenat. Diagn."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1093\/hmg\/ddg182","article-title":"Dimerization of SOX9 is required for chondrogenesis, but not for sex determination","volume":"12","author":"Bernard","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.mce.2014.05.006","article-title":"Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene","volume":"393","author":"Bhagavath","year":"2014","journal-title":"Mol. Cell Endocrinol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1016\/s0140-6736(71)91413-9","article-title":"Camptomelic dwarfism","volume":"1","author":"Bianchine","year":"1971","journal-title":"Lancet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/BF00271160","article-title":"Sex-reversed XY females with campomelic dysplasia are H-Y negative","volume":"57","author":"Bricarelli","year":"1981","journal-title":"Hum. Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"975947","DOI":"10.3389\/fped.2022.975947","article-title":"Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: a case report","volume":"10","author":"Calvache","year":"2022","journal-title":"Front. Pediatr."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1625","DOI":"10.1093\/hmg\/5.10.1625","article-title":"A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal","volume":"5","author":"Cameron","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.gene.2015.11.039","article-title":"Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report","volume":"577","author":"Carvajal","year":"2016","journal-title":"Gene"},{"key":"B13","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/bdra.23463","article-title":"Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel \u223c1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16","volume":"106","author":"Castori","year":"2016","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/j.urology.2011.07.1402","article-title":"Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene","volume":"79","author":"Chen","year":"2012","journal-title":"Urology"},{"key":"B15","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1159\/000322861","article-title":"Mild campomelic dysplasia: report on a case and review","volume":"1","author":"Corbani","year":"2011","journal-title":"Mol. Syndromol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1016\/j.jpedsurg.2008.10.003","article-title":"A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma","volume":"44","author":"Cost","year":"2009","journal-title":"J. Pediatr. Surg."},{"key":"B17","doi-asserted-by":"publisher","first-page":"2344","DOI":"10.1002\/humu.23888","article-title":"Dominant-negative SOX9 mutations in campomelic dysplasia","volume":"40","author":"Csukasi","year":"2019","journal-title":"Hum. Mutat."},{"key":"B18","first-page":"29","article-title":"Campomelic dysplasia without campomelia","volume":"27","author":"Decsi","year":"1992","journal-title":"Padiatr Padol"},{"key":"B19","first-page":"233","article-title":"No evidence of mutations in four candidate genes for male sex determination\/differentiation in sex-reversed XY females with campomelic dysplasia","volume":"34","author":"Ebensperger","year":"1991","journal-title":"Ann. Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"100404","DOI":"10.1016\/j.xhgg.2025.100404","article-title":"Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features","volume":"6","author":"Ettaki","year":"2025","journal-title":"HGG Adv."},{"key":"B21","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1186\/1471-2350-14-50","article-title":"The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia","volume":"14","author":"Fonseca","year":"2013","journal-title":"BMC Med. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/372525a0","article-title":"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene","volume":"372","author":"Foster","year":"1994","journal-title":"Nature"},{"key":"B23","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1097\/00019605-199207000-00010","article-title":"Campomelic dysplasia without overt campomelia","volume":"1","author":"Friedrich","year":"1992","journal-title":"Clin. Dysmorphol."},{"key":"B24","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1097\/00019605-200009030-00017","article-title":"SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia","volume":"9","author":"Friedrich","year":"2000","journal-title":"Clin. Dysmorphol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1002\/ajmg.a.35308","article-title":"Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula","author":"Fukami","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"B26","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/uog.7761","article-title":"Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene","volume":"36","author":"Gentilin","year":"2010","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1002\/1096-8628(20010115)98:2<176::aid-ajmg1027>3.0.co;2-q","article-title":"Genetic study of SOX9 in a case of campomelic dysplasia","volume":"98","author":"Giordano","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1002\/(sici)1096-8628(19970303)69:1<29::aid-ajmg6>3.0.co;2-o","article-title":"Acampomelic campomelic dysplasia: further radiographic variations","volume":"69","author":"Glass","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"S114","DOI":"10.1002\/humu.1380110138","article-title":"Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization","author":"Goji","year":"1998","journal-title":"Hum. Mutat."},{"key":"B30","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1007\/s12098-013-1007-x","article-title":"Acampomelic form of campomelic dysplasia with SOX9 missense mutation","volume":"81","author":"Gopakumar","year":"2014","journal-title":"Indian J. Pediatr."},{"key":"B31","doi-asserted-by":"publisher","first-page":"S112","DOI":"10.1002\/humu.1380110137","article-title":"Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia","author":"Hageman","year":"1998","journal-title":"Hum. Mutat."},{"key":"B32","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/jp.2011.92","article-title":"Acampomelic campomelic dysplasia in genetic male without sex reversal","volume":"32","author":"Herman","year":"2012","journal-title":"J. Perinatol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1111\/cga.12279","article-title":"Familial campomelic dysplasia due to maternal germinal mosaicism","volume":"58","author":"Higeta","year":"2018","journal-title":"Congenit. Anom. (Kyoto)"},{"key":"B34","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1086\/429254","article-title":"Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia","volume":"76","author":"Hill-Harfe","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1016\/S0929-6646(09)60286-2","article-title":"Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal","volume":"105","author":"Hsiao","year":"2006","journal-title":"J. Formos. Med. Assoc."},{"key":"B36","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1016\/s0022-3476(78)80897-x","article-title":"International nomenclature of constitutional diseases of bone. Revision--May, 1977","volume":"93","year":"1978","journal-title":"J. Pediatr."},{"key":"B37","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1136\/jmg.2006.046177","article-title":"Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2","volume":"44","author":"Jakobsen","year":"2007","journal-title":"J. Med. Genet."},{"key":"B38","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1097\/00019605-200107000-00009","article-title":"Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene","volume":"10","author":"Jakubiczka","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1159\/000302403","article-title":"Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal","volume":"4","author":"Jakubiczka","year":"2010","journal-title":"Sex. Dev."},{"key":"B40","doi-asserted-by":"publisher","first-page":"e5505","DOI":"10.1097\/MD.0000000000005505","article-title":"Spine malformation complex in 3 diverse syndromic entities: case reports","volume":"95","author":"Kaissi","year":"2016","journal-title":"Med. Baltim."},{"key":"B41","doi-asserted-by":"publisher","first-page":"154","DOI":"10.5152\/tpa.2014.1187","article-title":"A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene","volume":"49","author":"Karaer","year":"2014","journal-title":"Turk Pediatri Ars"},{"key":"B42","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1002\/mgg3.165","article-title":"Testicular dysgenesis\/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9","volume":"3","author":"Katoh-Fukui","year":"2015","journal-title":"Mol. Genet. Genomic Med."},{"key":"B43","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1080\/01443615.2019.1601165","article-title":"Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion","volume":"39","author":"Kayhan","year":"2019","journal-title":"J. Obstet. Gynaecol."},{"key":"B44","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1111\/imj.12472","article-title":"Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis","volume":"44","author":"Khor","year":"2014","journal-title":"Intern Med. J."},{"key":"B45","doi-asserted-by":"publisher","first-page":"143","DOI":"10.3346\/jkms.2011.26.1.143","article-title":"A case of campomelic dysplasia without sex reversal","volume":"26","author":"Kim","year":"2011","journal-title":"J. Korean Med. Sci."},{"key":"B46","first-page":"1028","article-title":"Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal","volume":"57","author":"Kwok","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"B47","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1002\/ajmg.a.32830","article-title":"Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9","author":"Lecointre","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"B48","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1111\/j.1399-0004.2007.00736.x","article-title":"Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia","volume":"71","author":"Leipoldt","year":"2007","journal-title":"Clin. Genet."},{"key":"B49","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1016\/j.ejmg.2012.08.003","article-title":"Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype","volume":"55","author":"Lestner","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"B50","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1177\/00034894241290098","article-title":"Long-Term outcomes of airway management in 6 children with campomelic dysplasia","volume":"133","author":"Li","year":"2024","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"B51","volume-title":"Campomelic syndrome without campomelia. Annales De RadiologieExpansion Sci francaise 31 blvd","author":"Lindgren","year":"1980"},{"key":"B52","doi-asserted-by":"publisher","first-page":"950271","DOI":"10.3389\/fgene.2022.950271","article-title":"Case report: cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion","volume":"13","author":"Liu","year":"2022","journal-title":"Front. Genet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1136\/jmg.30.8.683","article-title":"Campomelic dysplasia: evidence of autosomal dominant inheritance","volume":"30","author":"Lynch","year":"1993","journal-title":"J. Med. Genet."},{"key":"B54","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1007\/BF02010643","article-title":"Acampomelic campomelic dysplasia","volume":"20","author":"Macpherson","year":"1989","journal-title":"Pediatr. Radiol."},{"key":"B55","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1136\/jmg.39.8.597","article-title":"The phenotype of survivors of campomelic dysplasia","volume":"39","author":"Mansour","year":"2002","journal-title":"J. Med. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1399-0004.1991.tb03050.x","article-title":"A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis","volume":"39","author":"Maraia","year":"1991","journal-title":"Clin. Genet."},{"key":"B57","first-page":"1157","article-title":"The campomelic syndrome","volume":"79","author":"Maroteaux","year":"1971","journal-title":"Presse Med. (1893)"},{"key":"B58","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1159\/000176299","article-title":"Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases","volume":"24","author":"Massardier","year":"2008","journal-title":"Fetal Diagn Ther."},{"key":"B59","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.braindev.2017.09.002","article-title":"The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation","volume":"40","author":"Matsumoto","year":"2018","journal-title":"Brain Dev."},{"key":"B60","doi-asserted-by":"publisher","first-page":"2528","DOI":"10.1002\/ajmg.a.36134","article-title":"A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome","author":"Matsushita","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"B61","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1590\/S1415-475738120140147","article-title":"Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations","volume":"38","author":"Mattos","year":"2015","journal-title":"Genet. Mol. Biol."},{"key":"B62","doi-asserted-by":"publisher","first-page":"24023","DOI":"10.1074\/jbc.274.34.24023","article-title":"Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia","volume":"274","author":"McDowall","year":"1999","journal-title":"J. Biol. Chem."},{"key":"B63","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1093\/hmg\/6.1.91","article-title":"Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype\/phenotype correlations","volume":"6","author":"Meyer","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"B64","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1002\/pd.935","article-title":"Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester","volume":"24","author":"Michel-Calemard","year":"2004","journal-title":"Prenat. Diagn"},{"key":"B65","doi-asserted-by":"publisher","first-page":"S288","DOI":"10.1016\/j.gim.2022.01.492","article-title":"eP459: rare clinical gene variant of SOX9: acampomelic campomelic dysplasia","volume":"24","author":"Miller","year":"2022","journal-title":"Genet. Med."},{"key":"B66","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.10033","article-title":"Acampomelic campomelic syndrome","volume":"104","author":"Moog","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"B67","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1620\/tjem.245.187","article-title":"Newly identified t(2;17)(p15;q24.2) chromosomal translocation is associated with dysgenetic gonads and multiple somatic anomalies","volume":"245","author":"Morozumi","year":"2018","journal-title":"Tohoku J. Exp. Med."},{"key":"B68","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1177\/000348941112001009","article-title":"Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck","volume":"120","author":"Nelson","year":"2011","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"B69","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/ajmg.1320560109","article-title":"Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation","volume":"56","author":"Ninomiya","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"B70","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1093\/hmg\/5.1.69","article-title":"Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal","volume":"5","author":"Ninomiya","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"B71","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1034\/j.1399-0004.2000.580310.x","article-title":"A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal","volume":"58","author":"Ninomiya","year":"2000","journal-title":"Clin. Genet."},{"key":"B72","doi-asserted-by":"publisher","first-page":"e50","DOI":"10.1136\/jmg.39.9.e50","article-title":"Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome","volume":"39","author":"Offiah","year":"2002","journal-title":"J. Med. Genet."},{"key":"B73","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1515\/jpem.2010.187","article-title":"Patient reports: two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival","volume":"23","author":"Okamoto","year":"2010","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"B74","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<20::AID-AJMG5>3.0.CO;2-N","article-title":"Campomelic syndrome and deletion of SOX9","volume":"84","author":"Olney","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"B75","first-page":"23","article-title":"A case of acampomelic campomelic dysplasia","volume":"13","author":"Ozkilic","year":"2002","journal-title":"Genet. Couns."},{"key":"B76","doi-asserted-by":"publisher","first-page":"253","DOI":"10.4103\/0970-0358.191310","article-title":"A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction","volume":"49","author":"Pasupathy","year":"2016","journal-title":"Indian J. Plast. Surg."},{"key":"B77","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1086\/302455","article-title":"Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region","volume":"65","author":"Pfeifer","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"B78","doi-asserted-by":"publisher","first-page":"e47","DOI":"10.1136\/jmg.2003.013185","article-title":"Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal","volume":"41","author":"Pop","year":"2004","journal-title":"J. Med. Genet."},{"key":"B79","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/s00439-005-1295-y","article-title":"A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion","volume":"117","author":"Pop","year":"2005","journal-title":"Hum. Genet."},{"key":"B80","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1002\/ajmg.a.37466","article-title":"SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: prenatal and postnatal clinical findings","volume":"170","author":"Preiksaitiene","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"B81","doi-asserted-by":"publisher","first-page":"27864","DOI":"10.1074\/jbc.M101278200","article-title":"Compound effects of point mutations causing campomelic dysplasia\/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation","volume":"276","author":"Preiss","year":"2001","journal-title":"J. Biol. Chem."},{"key":"B82","doi-asserted-by":"publisher","first-page":"1089194","DOI":"10.3389\/fped.2022.1089194","article-title":"Case report: a de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia","volume":"10","author":"Qiao","year":"2022","journal-title":"Front. Pediatr."},{"key":"B83","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1002\/ajmg.1320460218","article-title":"Vascular anomalies in campomelic syndrome","volume":"46","author":"Rodr\u00edguez","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"B84","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1136\/jmg.35.7.597","article-title":"Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype","volume":"35","author":"Savarirayan","year":"1998","journal-title":"J. Med. Genet."},{"key":"B85","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1590\/s1415-47572006000400007","article-title":"A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia","volume":"29","author":"Shotelersuk","year":"2006","journal-title":"Hum. Med. Genet."},{"key":"B86","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1002\/ajmg.a.31631","article-title":"Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father","author":"Smyk","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"B87","doi-asserted-by":"publisher","first-page":"1439","DOI":"10.1093\/hmg\/ddg158","article-title":"Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia","volume":"12","author":"Sock","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B88","volume-title":"Bone dysplasias: an atlas of constitutional disorders of skeletal development","author":"Spranger","year":"1974"},{"key":"B89","doi-asserted-by":"publisher","first-page":"E1436","DOI":"10.1002\/humu.21238","article-title":"Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia","volume":"31","author":"Staffler","year":"2010","journal-title":"Hum. Mutat."},{"key":"B90","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<247::AID-AJMG3>3.0.CO;2-P","article-title":"Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?","volume":"73","author":"Stalker","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"B91","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/ajmg.1559","article-title":"Dominant transmission of a previously unidentified 13\/17 translocation in a five-generation family with Robin cleft and other skeletal defects","volume":"103","author":"Stalker","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"B92","first-page":"49","article-title":"A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal","volume":"22","author":"Stoeva","year":"2011","journal-title":"Genet. Couns."},{"key":"B93","doi-asserted-by":"publisher","first-page":"104332","DOI":"10.1016\/j.ejmg.2021.104332","article-title":"Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene","volume":"64","author":"Takano","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"B94","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.ejmg.2014.03.012","article-title":"SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype","volume":"57","author":"Takenouchi","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"B95","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1002\/1096-8628","article-title":"Acampomelic campomelic dysplasia with SOX9 mutation","volume":"93","author":"Thong","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"B96","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/ng0693-170","article-title":"Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1","volume":"4","author":"Tommerup","year":"1993","journal-title":"Nat. Genet."},{"key":"B97","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1111\/jog.12032","article-title":"His165Pro: a novel SOX9 missense mutation of campomelic dysplasia","volume":"39","author":"Tonni","year":"2013","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"B98","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1016\/j.tjog.2015.10.027","article-title":"Skeletal dysplasia with bowing long bones: proposed flowchart for prenatal diagnosis with case demonstration","volume":"55","author":"Tonni","year":"2016","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"B99","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/ajmg.a.30451","article-title":"The mildest form of campomelic dysplasia","author":"Unger","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"B100","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1086\/429252","article-title":"Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia","volume":"76","author":"Velagaleti","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"B101","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/mgg3.282","article-title":"A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia","volume":"5","author":"von Bohlen","year":"2017","journal-title":"Mol. Genet. Genomic Med."},{"key":"B102","doi-asserted-by":"publisher","first-page":"2882","DOI":"10.1002\/ajmg.a.33107","article-title":"Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia","author":"Wada","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"B103","doi-asserted-by":"publisher","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":"Wagner","year":"1994","journal-title":"Cell"},{"key":"B104","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.ejmg.2014.04.018","article-title":"Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia","volume":"57","author":"Walters-Sen","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"B105","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1177\/10935266251341510","article-title":"Campomelic dysplasia with sex reversal, gonadal dysgenesis, and bilateral gonadoblastoma","volume":"28","author":"Waszyn","year":"2025","journal-title":"Pediatr. Dev. Pathol."},{"key":"B106","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/ajmg.a.30650","article-title":"Differentiating campomelic dysplasia from cumming syndrome","volume":"135","author":"Watiker","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"B107","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1007\/BF02265263","article-title":"Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9","volume":"97","author":"Wirth","year":"1996","journal-title":"Hum. Genet."},{"key":"B108","doi-asserted-by":"publisher","first-page":"242","DOI":"10.2174\/1566523219666190924120307","article-title":"A recurrent rare SOX9 variant (M469V) is associated with congenital vertebral malformations","volume":"19","author":"Wu","year":"2019","journal-title":"Curr. Gene Ther."},{"key":"B109","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1136\/jmg.29.4.251","article-title":"Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation","volume":"29","author":"Young","year":"1992","journal-title":"J. Med. Genet."},{"key":"B110","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/j.ejogrb.2019.05.021","article-title":"Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia","volume":"238","author":"Zhen","year":"2019","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1755075\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T09:10:10Z","timestamp":1773133810000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1755075\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,10]]},"references-count":110,"alternative-id":["10.3389\/fgene.2026.1755075"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2026.1755075","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,10]]},"article-number":"1755075"}}