{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T06:42:37Z","timestamp":1771915357511,"version":"3.50.1"},"reference-count":11,"publisher":"American Veterinary Medical Association (AVMA)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["javma"],"published-print":{"date-parts":[[2016,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>CASE DESCRIPTION<\/jats:bold> A 2-year-old primiparous miniature Scottish Highland cow with an unknown breeding date was evaluated for suspected hydrops.<\/jats:p>\n<jats:p><jats:bold>CLINICAL FINDINGS<\/jats:bold> Transabdominal and transrectal ultrasonographic examination identified a large amount of hypoechoic fluid within an enlarged uterus; the fetus could not be identified. Presence of a severely distended uterus and concerns regarding associated health risks to the cow led to the decision to induce labor. Although fluids were expelled, parturition did not progress further over the following 48 hours. Vaginal examination revealed a partially dilated cervix and an abnormally shaped fetus that was too large to pass vaginally.<\/jats:p>\n<jats:p><jats:bold>TREATMENT AND OUTCOME<\/jats:bold> Supportive care was provided to the cow, and a stillborn bull calf was delivered by cesarean section. Grossly evident chondrodystrophic dwarfism with hydrocephalus, compatible with so-called bulldog calf malformations, was confirmed by diagnostic imaging and histopathologic evaluation. The cow recovered from surgery uneventfully and was discharged from the hospital the following day. Genetic analysis of DNA from hair roots collected from the sire and dam confirmed both were carriers of an aggrecan-1 gene mutation (bulldog dwarfism1) previously associated with dwarfism and bulldog calf malformations in Dexter cattle.<\/jats:p>\n<jats:p><jats:bold>CLINICAL RELEVANCE<\/jats:bold> To our knowledge, this is the first reported case of bulldog calf malformations associated with an aggrecan-1 gene mutation in miniature Scottish Highland cattle, confirming that at least 1 genetic mutation associated with this condition is found in cattle breeds other than Dexter. The findings highlighted the clinical importance of testing for known genetic diseases in breeding cattle, particularly among miniature breeds.<\/jats:p>","DOI":"10.2460\/javma.248.5.552","type":"journal-article","created":{"date-parts":[[2016,2,17]],"date-time":"2016-02-17T17:40:14Z","timestamp":1455730814000},"page":"552-556","source":"Crossref","is-referenced-by-count":8,"title":["Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow"],"prefix":"10.2460","volume":"248","author":[{"given":"L.","family":"Catalina Cabrera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bret R.","family":"McNabb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E.","family":"Woods","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew N.","family":"Cartoceti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosie C.","family":"Busch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1272","reference":[{"key":"ref1","series-title":"Mamm Genome","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1007\/s00335-007-9066-9","article-title":"Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN","volume":"18","author":"Cavanagh","year":"2007"},{"key":"ref2","series-title":"Productions Animales","first-page":"269","article-title":"Individual traceability of bovine meat using molecular markers [in French]","volume":"13","author":"Sancristobal-Gaudy","year":"2000"},{"key":"ref3","series-title":"Aust Vet J","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1111\/j.1751-0813.1998.tb10129.x","article-title":"Chondrodysplasia in Australian Dexter cattle","volume":"76","author":"Harper","year":"1998"},{"key":"ref4","series-title":"Theriogenology","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.theriogenology.2008.04.016","article-title":"Heritable bovine fetal abnormalities","volume":"70","author":"Whitlock","year":"2008"},{"key":"ref5","series-title":"Anim Genet","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1111\/j.1365-2052.2005.01340.x","article-title":"et al. Characterisation of the bovine aggrecan gene: genomic structure and physical and linkage mapping","volume":"36","author":"Cavanagh","year":"2005"},{"key":"ref6","series-title":"Trends Cell Biol","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1016\/S0962-8924(00)89115-1","article-title":"The ins and outs of aggrecan","volume":"5","author":"Vertel","year":"1995"},{"key":"ref7","series-title":"Theriogenology","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.theriogenology.2007.04.023","article-title":"Complications during gestation in the cow","volume":"68","author":"Drost","year":"2007"},{"key":"ref8","series-title":"Current therapy in large animal theriogenology","first-page":"428","article-title":"Dropsical conditions affecting pregnancy","author":"Peek","year":"2007"},{"key":"ref9","series-title":"Am J Obstet Gynecol","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1016\/0002-9378(91)90005-C","article-title":"Amniotic fluid volume response to esophageal occlusion in fetal sheep","volume":"165","author":"Fujino","year":"1991"},{"key":"ref10","series-title":"Aust Vet J","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1111\/j.1751-0813.2006.00018.x","article-title":"Hydrops fetalis associated with pulmonary hypoplasia in Dexter calves","volume":"84","author":"Windsor","year":"2006"},{"key":"ref11","series-title":"Proc Natl Acad Sci USA","doi-asserted-by":"publisher","first-page":"19250","DOI":"10.1073\/pnas.0904513106","article-title":"A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle","volume":"106","author":"Koltes","year":"2009"}],"container-title":["Journal of the American Veterinary Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/avmajournals.avma.org\/view\/journals\/javma\/248\/5\/javma.248.5.552.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/avmajournals.avma.org\/downloadpdf\/journals\/javma\/248\/5\/javma.248.5.552.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/avmajournals.avma.org\/downloadpdf\/journals\/javma\/248\/5\/javma.248.5.552.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T11:49:15Z","timestamp":1741348155000},"score":1,"resource":{"primary":{"URL":"https:\/\/avmajournals.avma.org\/view\/journals\/javma\/248\/5\/javma.248.5.552.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,1]]},"references-count":11,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.2460\/javma.248.5.552","relation":{},"ISSN":["0003-1488"],"issn-type":[{"value":"0003-1488","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3,1]]}}}