{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T20:25:09Z","timestamp":1789590309180,"version":"build-2803163510"},"reference-count":46,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T00:00:00Z","timestamp":1684972800000},"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. Vet. Sci."],"abstract":"<jats:p>Two boxer dogs from the same litter were presented at 3 months of age for urinary and fecal incontinence. Both dogs had an abnormal tail consisting of a small stump, an atonic anal sphincter, and absent perineal reflex and sensation. Neurological evaluation was indicative of a lesion of the cauda equina or sacral spinal cord. Radiology and CT scan of the spine displayed similar findings in the two dogs that were indicative of sacral agenesis. Indeed, they had 6 lumbar vertebrae followed by a lumbosacral transitional vertebra, lacking a complete spinous process, and a hypoplastic vertebra carrying 2 hypoplastic sacral transverse processes as the only remnant of the sacral bone. Caudal vertebrae were absent in one of the dogs. On MRI, one dog had a dural sac occupying the entire spinal canal and ending in a subfascial fat structure. In the other dog, the dural sac finished in an extracanalar, subfascial, well-defined cystic structure, communicating with the subarachnoid space, and consistent with a meningocele. Sacral agenesis\u2014that is the partial or complete absence of the sacral bones\u2014is a neural tube defect occasionally reported in humans with spina bifida occulta. Sacral agenesis has been described in human and veterinary medicine in association with conditions such as caudal regression syndrome, perosomus elumbis, and Currarino syndrome. These neural tube defects are caused by genetic and\/or environmental factors. Despite thorough genetic investigation, no candidate variants in genes with known functional impact on bone development or sacral development could be found in the affected dogs. To the best of the authors' knowledge, this is the first report describing similar sacral agenesis in two related boxer dogs.<\/jats:p>","DOI":"10.3389\/fvets.2023.1201484","type":"journal-article","created":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T04:36:55Z","timestamp":1684989415000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome"],"prefix":"10.3389","volume":"10","author":[{"given":"Diletta","family":"Dell'Apa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Fumeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Volta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Fidanzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Buffagni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Christen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezio","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,5,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"659612","DOI":"10.3389\/fgene.2021.659612","article-title":"Gene environment interactions in the etiology of neural tube defects","volume":"12","author":"Finnell","year":"2021","journal-title":"Front Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"2071","DOI":"10.1002\/ajmg.a.35438","article-title":"Antiepileptic drugs and pregnancy outcomes","author":"Wlodarczyk","year":"2012","journal-title":"Am J Med Genet A."},{"key":"B3","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/path.2643","article-title":"Genetics and development of neural tube defects","volume":"220","author":"Copp","year":"2010","journal-title":"J Pathol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1002\/bdr2.1380","article-title":"Overview on neural tube defects: from development to physical characteristics","volume":"111","author":"Avagliano","year":"2019","journal-title":"Birth Defects Res."},{"key":"B5","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1016\/j.cvsm.2010.05.009","article-title":"Congenital spinal malformations in small animals","volume":"40","author":"Westworth","year":"2010","journal-title":"Vet Clin North Am Small Anim Pract."},{"key":"B6","doi-asserted-by":"publisher","first-page":"389","DOI":"10.17555\/jvc.2016.12.33.6.389","article-title":"Imaging diagnosis of sacrocaudal dysgenesis in a shih-tzu dog","volume":"33","author":"Choi","year":"2016","journal-title":"J Vet Clin."},{"key":"B7","first-page":"304","article-title":"Malformations and the Manx syndrome in cats","volume":"20","author":"Deforest","year":"1979","journal-title":"Can Vet J."},{"key":"B8","first-page":"520","article-title":"Congenital defects on the caudal vertebral column and spinal cord in Manx cats","volume":"164","author":"Leipold","year":"1974","journal-title":"J Am Vet Med Assoc."},{"key":"B9","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.2460\/javma.1993.203.08.1159","article-title":"Tethered spinal cord and an intradural lipoma associated with a meningocele in a Manx-type cat","volume":"203","author":"Plummer","year":"1993","journal-title":"J Am Vet Med Assoc."},{"key":"B10","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1007\/s00335-013-9471-1","article-title":"Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats","volume":"24","author":"Buckingham","year":"2013","journal-title":"Mamm Genome."},{"key":"B11","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1007\/s003350010253","article-title":"Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-tail phenotype","volume":"12","author":"Haworth","year":"2001","journal-title":"Mamm Genome"},{"key":"B12","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1093\/jhered\/esn085","article-title":"Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds","volume":"100","author":"Hyt\u00f6nen","year":"2009","journal-title":"J Hered."},{"key":"B13","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.jcpa.2012.03.003","article-title":"Perosomus elumbis in a puppy","volume":"147","author":"Amaral","year":"2012","journal-title":"J Comp Pathol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1292\/jvms.70.521","article-title":"A case of perosomus elumbis in a Holstein calf","volume":"70","author":"Son","year":"2008","journal-title":"J Vet Med Sc."},{"key":"B15","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1111\/age.12834","article-title":"A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves","volume":"50","author":"Jagannathan","year":"2019","journal-title":"Anim. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1002\/ddrr.93","article-title":"Epidemiologic and genetic aspects of spina bifida and other neural tube defects","volume":"16","author":"Au","year":"2010","journal-title":"Dev Disabil Res Rev."},{"key":"B17","first-page":"11","article-title":"Neuroembriology","volume-title":"Veterinary Neuroanatomy: A Clinical Approach","author":"Thomson","year":"2012"},{"key":"B18","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1111\/vsu.13342","article-title":"Surgical outcomes of six bulldogs with spinal lumbosacral meningomyelocele or meningocele","volume":"49","author":"Mart\u00edn Mu\u00f1iz","year":"2020","journal-title":"Vet Surg."},{"key":"B19","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1111\/vru.12753","article-title":"Congenital malformations of the lumbosacral vertebral column are common in neurologically normal French bulldogs, English bulldogs, and pugs, with breed-specific differences","volume":"60","author":"Bertram","year":"2019","journal-title":"Vet Radiol Ultrasound."},{"key":"B20","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/j.cvsm.2015.10.007","article-title":"Spina bifida, meningomyelocele, and meningocele","volume":"46","author":"Song","year":"2016","journal-title":"Vet Clin North Am Small Anim Pract."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1693","DOI":"10.1007\/s00381-016-3022-5","article-title":"Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes","volume":"32","author":"Balioglu","year":"2016","journal-title":"Childs Nerv Syst."},{"key":"B22","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1053\/j.sult.2014.08.001","article-title":"Spine ultrasound imaging in the newborn","volume":"35","author":"Ladino Torres","year":"2014","journal-title":"Semin Ultrasound CT MR."},{"key":"B23","doi-asserted-by":"publisher","first-page":"211","DOI":"10.3390\/children7110211","article-title":"Caudal regression syndrome","volume":"7","author":"Kylat","year":"2020","journal-title":"Children."},{"key":"B24","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1007\/s00383-005-1451-4","article-title":"Caudal regression syndrome\u2013case report and review of literature","volume":"21","author":"Singh","year":"2005","journal-title":"Pediatr Surg Int."},{"key":"B25","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1016\/j.wneu.2020.07.055","article-title":"Caudal regression syndrome (spinal thoraco-lumbo-sacro-coccygeal agenesis)","volume":"142","author":"Akhaddar","year":"2020","journal-title":"World Neurosurg."},{"key":"B26","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/s00383-018-4402-6","article-title":"Sacral agenesis and fecal incontinence: how to increase the index of suspicion","volume":"35","author":"Dewberry","year":"2019","journal-title":"Pediatr Surg Int."},{"key":"B27","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1111\/j.1464-410X.2004.05053.x","article-title":"Sacral ratio and fecal continence in children with anorectal malformations","volume":"94","author":"Macedo","year":"2004","journal-title":"BJU Int."},{"key":"B28","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1002\/bdra.20482","article-title":"Mutational analysis of SHH and GLI3 in anorectal malformations","volume":"82","author":"Garcia-Barcel\u00f3","year":"2008","journal-title":"Birth Defects Res A Clin Mol Teratol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1016\/j.jpedsurg.2005.05.004","article-title":"The Currarino triad: the variable expression","volume":"40","author":"Emans","year":"2005","journal-title":"J Pediatr Surg."},{"key":"B30","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1016\/j.radcr.2020.05.023","article-title":"Caudal regression syndrome (Currarino syndrome) with chromosome mutation 9","volume":"15","author":"Bevanda","year":"2020","journal-title":"Radiology Case Rep."},{"key":"B31","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1016\/j.jpedsurg.2004.05.003","article-title":"Currarino syndrome: proposal of a diagnostic and therapeutic protocol","volume":"39","author":"Martucciello","year":"2004","journal-title":"J Pediatr Surg."},{"key":"B32","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1186\/s13023-021-01799-0","article-title":"Currarino syndrome: a comprehensive genetic review of a rare congenital disorder","volume":"16","author":"Dworschak","year":"2021","journal-title":"Orphanet J Rare Dis."},{"key":"B33","doi-asserted-by":"publisher","first-page":"2055116916628555","DOI":"10.1177\/2055116916628555","article-title":"Lumbosacral agenesis in a cat","volume":"2","author":"Hybki","year":"2016","journal-title":"JFMS Open Rep."},{"key":"B34","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1111\/jmp.12459","article-title":"Perosomus elumbis in a stillborn rhesus macaque (Macaca mulatta): a case report","volume":"49","author":"Patrick","year":"2020","journal-title":"J Med Primatol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1136\/vr.160.4.127","article-title":"Perosomus elumbis in a pig","volume":"160","author":"Avedillo","year":"2007","journal-title":"Vet Rec."},{"key":"B36","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1111\/j.1751-0813.1975.tb09436.x","article-title":"Perosomus elumbis in sheep","volume":"51","author":"Dennis","year":"1975","journal-title":"Aust Vet J."},{"key":"B37","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1354\/vp.36-1-64","article-title":"Perosomus elumbis (vertebral agenesis and arthrogryposis) in a stillborn Holstein calf","volume":"36","author":"Jones","year":"1999","journal-title":"Vet Pathol."},{"key":"B38","first-page":"2472","article-title":"Surgical management of dystocia due to Perosomus elumbis in a nondescript buffalo.","volume":"6","author":"Balamurugan","year":"2018","journal-title":"J Entomol Zool Stud."},{"key":"B39","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1186\/s12917-014-0227-2","article-title":"Perosomus elumbis in Danish Holstein cattle","volume":"10","author":"Agerholm","year":"2014","journal-title":"BMC Vet Res."},{"key":"B40","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.rvsc.2010.11.009","article-title":"Perosomus elumbis, cerebral aplasia, and spina bifida in an aborted thoroughbred foal","volume":"92","author":"Gerhauser","year":"2012","journal-title":"Res Vet Sci."},{"key":"B41","doi-asserted-by":"publisher","first-page":"1132","DOI":"10.3390\/ani11041132","article-title":"Perosomus elumbis in piglets: Pathological, radiological and cytogenetic findings","volume":"11","author":"Piegari","year":"2021","journal-title":"Animals"},{"key":"B42","first-page":"17","article-title":"Inherited disorders of cattle: a selected review","volume":"43","author":"Gentile","year":"2006","journal-title":"Slov Vet Res."},{"key":"B43","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1002\/tera.1420450208","article-title":"Valproic acid-induced spina bifida: a mouse model","volume":"45","author":"Ehlers","year":"1992","journal-title":"Teratology."},{"key":"B44","doi-asserted-by":"publisher","first-page":"1034240","DOI":"10.3389\/fped.2022.1034240","article-title":"Diagnosis and management of fecal incontinence in children and adolescents","volume":"10","author":"Shen","year":"2022","journal-title":"Front Pediatr."},{"key":"B45","doi-asserted-by":"publisher","first-page":"56","DOI":"10.4103\/iju.IJU_184_17","article-title":"Symptomatic lower urinary tract dysfunction in sacral agenesis: Potentially high risk?","volume":"34","author":"Sinha","year":"2018","journal-title":"Indian J Urol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/S0094-0143(05)70312-8","article-title":"Electromyography of the perineal floor","volume":"23","author":"Siroky","year":"1996","journal-title":"Urol Clin North Am"}],"container-title":["Frontiers in Veterinary Science"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fvets.2023.1201484\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T01:43:52Z","timestamp":1729475032000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fvets.2023.1201484\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,25]]},"references-count":46,"alternative-id":["10.3389\/fvets.2023.1201484"],"URL":"https:\/\/doi.org\/10.3389\/fvets.2023.1201484","relation":{},"ISSN":["2297-1769"],"issn-type":[{"value":"2297-1769","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,25]]},"article-number":"1201484"}}