{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:09:20Z","timestamp":1760148560503,"version":"build-2065373602"},"reference-count":100,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Increasing the impact of excellence re-search on the capacity for innovation and technology transfer within USAMVB Timi\u0219oara"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Congenital abnormalities in animals, including abnormalities of the cleft lip and jaw and hypospadias have been reported in all domesticated species. They are a major concern for breeders due to the increased economic loss they entail. In this article, we described a congenital bilateral cheilognathoschisis (cleft lip and jaw) with campylognathia in association with penile hypospadias and preputial hypoplasia with failure of preputial fusion in a Bos taurus crossbred Piedmontese \u00d7 Wagyu calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. Clinical examination revealed a bilateral cheilognathoschisis of approximately 4 cm in length and 3 cm in width in the widest part, with computer tomography analyses confirming the bilateral absence of the processus nasalis of the incisive bone and the lateral deviation of the processus palatinus towards the left side. Genomic data analyses identified 13 mutations with a high impact on the products of the following overlapped genes: ACVR1, ADGRA2, BHMT2, BMPR1B, CCDC8, CDH1, EGF, F13A1, GSTP1, IRF6, MMP14, MYBPHL, and PHC2 with ADGRA2, EGF, F13A1, GSTP1, and IRF6 having mutations in a homozygous state. The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case.<\/jats:p>","DOI":"10.3390\/ani13101709","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T05:04:44Z","timestamp":1684731884000},"page":"1709","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1099-331X","authenticated-orcid":false,"given":"Simona","family":"Marc","sequence":"first","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"},{"name":"Research Institute for Biosecurity and Bioengineering, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, 300645 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandru Eugeniu","family":"Mizeranschi","sequence":"additional","affiliation":[{"name":"The Molecular Research Department, Research and Development Station for Bovine Arad, Bodrogului Street, 32, 310059 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5570-8418","authenticated-orcid":false,"given":"Cristina","family":"Paul","sequence":"additional","affiliation":[{"name":"Department of Applied Chemistry and Engineering of Organic and Natural Compounds, Faculty of Industrial Chemistry and Environmental Engineering, Politehnica University Timisoara, Carol Telbisz 6, 300001 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Otav\u0103","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"},{"name":"Research Institute for Biosecurity and Bioengineering, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, 300645 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"Savici","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogdan","family":"Sicoe","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iuliu","family":"Torda","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"},{"name":"Research Institute for Biosecurity and Bioengineering, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, 300645 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0594-2852","authenticated-orcid":false,"given":"Ioan","family":"Hu\u021bu","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"},{"name":"Research Institute for Biosecurity and Bioengineering, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, 300645 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6446-2472","authenticated-orcid":false,"given":"C\u0103lin","family":"Mircu","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"},{"name":"Research Institute for Biosecurity and Bioengineering, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, 300645 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela Elena","family":"Ilie","sequence":"additional","affiliation":[{"name":"The Molecular Research Department, Research and Development Station for Bovine Arad, Bodrogului Street, 32, 310059 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihai","family":"Caraba\u0219","sequence":"additional","affiliation":[{"name":"Faculty of Automatic Control and Computer Science, Politehnica University of Bucharest, Splaiul Independen\u0163ei 313, 060042 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9335-4462","authenticated-orcid":false,"given":"Oana Maria","family":"Boldura","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, Calea Aradului 119, 300645 Timisoara, Romania"},{"name":"Research Institute for Biosecurity and Bioengineering, University of Life Sciences \u2018\u2019King Mihai I\u2019\u2019 from Timisoara, 300645 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,22]]},"reference":[{"key":"ref_1","unstructured":"McGeady, T.A., Quinn, P.J., FitzPatrick, E.S., Ryan, M.T., Kilroy, D., and Lonergan, P. 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