Case Report
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Year 2025, Volume: 5 Issue: 1, 20 - 23, 30.06.2025
https://doi.org/10.5281/zenodo.15755483

Abstract

References

  • Dart A. Congenital and inherited anomalies in animals [Internet]. MSD Veterinary Manual; 2020 [cited 2025 Mar 2]. Available from: https://www.msdvetmanual.com/generalized-conditions/congenital-and-inherited-anomalies-in-animals
  • Blowey RW, Weaver AD. Congenital disorders. In: Colour Atlas of Diseases and Disorders in cattle. 3 rd ed. Edinburgh, Mosby, 2011, s 1-11.
  • Gholap PN, Kale DS, Sirothia AR. Genetic diseases in cattle: A review. Res J Anim Vet Fish Sci. 2014;2(2):24-33.
  • Bosse M, Megens HJ, Derks MF, de Cara ÁM, Groenen MA. Deleterious alleles in the context of domestication, inbreeding, and selection. Evol Appl. 2019;12(1):6-17. https://doi.org/10.1111/eva.12691
  • Schwertz CI, Bianchi RM, Vielmo A, et al. Nutritional chondrodysplasia in cattle in Brazil. Trop Anim Health Prod. 2023;55(1):26. https://doi.org/10.1007/s11250-022-03438-7
  • Dittmer KE, Thompson KG. Approach to investigating congenital skeletal abnormalities in livestock. Vet Pathol. 2015;52(5):851-61. https://doi.org/10.1177/030098581557
  • Moura E, Pimpão CT. Veterinary dysmorphology. In: Perez-Marin CC, editor. A Bird's-Eye View of Veterinary Medicine. Rijeka: InTech; 2012.
  • Kapakin AKT, Kutsal O. Tavuklarda deneysel amiloid artropatinin ışık mikroskobik ve elektron mikroskobik incelenmesi. Ankara Univ Vet Fak Derg. 2008;55(1):37-42.
  • Kostyunina O, Yaryshkin A, Bykova O, et al. Identification of lethal recessive genetic variants in Holstein cattle. In: BIO Web of Conferences. Vol. 108. EDP Sciences; 2024. p. 01002.
  • D'Soares CS, Muramoto C, Silva AW, et al. Chondrodysplasia Bulldog type in cattle in the state of Bahia, Brazil. Braz J Vet Pathol. 2020;13(2):536-541. DOI: 10.24070/bjvp.1983-0246.v13i2p536-541
  • Jacinto JGP, Häfliger IM, Letko A, Drögemüller C, Agerholm JS. A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle. Acta Vet Scand. 2020;62(1). https://doi.org/10.1186/s13028-020-00548-w
  • Agerholm JS, Menzi F, McEvoy FJ, Jagannathan V, Drögemüller C. Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1. BMC Vet Res. 2016;12:1-9. DOI: 10.1186/s12917-016-0739-z
  • Wurster F, Bassuino DM, Juffo GD, et al. Chondrodysplasia Dexter type in aborted bovine fetuses. Acta Sci Vet. 2012;40(3):1060-1064.
  • Muhammad SA, Sajid M, Shahzad AH, et al. Delivery of bulldog type achondroplasia calf after management of dystocia in Sahiwal cattle. Pak J Life Soc Sci. 2021;19:43-5.
  • Cabrera LC, McNabb BR, Woods ES, Cartoceti NA. Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow. J Am Vet Med Assoc. 2016;248:552-6. https://doi.org/10.2460/javma.248.5.552
  • Struck K, Dierks C, Braun M, et al. A recessive lethal chondrodysplasia in a miniature Zebu family results from an insertion affecting the chondroitin sulfate domain of aggrecan. BMC Genet. 2018;19:91. https://doi.org/10.1186/s12863-018-0678-8
  • Reinartz S, Schütz E, Jagannathan V, Leeb T, Drögemüller C. Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family. BMC Genomics. 2017;18:1-10.

Case of Chondrodysplasia in a Holstein Calf

Year 2025, Volume: 5 Issue: 1, 20 - 23, 30.06.2025
https://doi.org/10.5281/zenodo.15755483

Abstract

The aim of this study was to describe, from a pathomorphological perspective, a case of chondrodysplasia observed in a newborn Holstein calf. According to the anamnesis, the first remarkable finding in the calf, which was delivered at the Department of Obstetrics and Gynaecology of our faculty, was that its joints fractured easily during birth. Multiple anomalies were observed in the calf at birth. Macroscopic examination revealed that the body of the calf was short, and the skull was disproportionately large. It was also observed that both the front and hind legs were short and that the calf had arthrogryposis, scoliosis of the vertebrae, and herniation in the umbilical region. Upon opening the thoracic cavity, it was noted that the ribs and sternum were not fully developed and that the vertebrae were curved. Additionally, the trachea was found to be smaller and more curved than normal, and the bronchial structures of the lungs were absent. When the skull was opened, hydrocephalus was observed. The most striking finding was that all bone and cartilage tissues of the body were soft and fragile. Tissue samples were fixed in 10% buffered formalin solution for 48 hours and decalcified using 36.8% formic acid and 6.8% sodium formate for histopathological examinations. They were then embedded in paraffin blocks following a routine tissue processing procedure. Sections of 4–5 µm thickness were taken with a microtome, stained with haematoxylin-eosin (H&E), and examined under a light microscope. Histopathological examination revealed degenerative and hypertrophic chondrocytes as well as incomplete vascularization in the affected region.

References

  • Dart A. Congenital and inherited anomalies in animals [Internet]. MSD Veterinary Manual; 2020 [cited 2025 Mar 2]. Available from: https://www.msdvetmanual.com/generalized-conditions/congenital-and-inherited-anomalies-in-animals
  • Blowey RW, Weaver AD. Congenital disorders. In: Colour Atlas of Diseases and Disorders in cattle. 3 rd ed. Edinburgh, Mosby, 2011, s 1-11.
  • Gholap PN, Kale DS, Sirothia AR. Genetic diseases in cattle: A review. Res J Anim Vet Fish Sci. 2014;2(2):24-33.
  • Bosse M, Megens HJ, Derks MF, de Cara ÁM, Groenen MA. Deleterious alleles in the context of domestication, inbreeding, and selection. Evol Appl. 2019;12(1):6-17. https://doi.org/10.1111/eva.12691
  • Schwertz CI, Bianchi RM, Vielmo A, et al. Nutritional chondrodysplasia in cattle in Brazil. Trop Anim Health Prod. 2023;55(1):26. https://doi.org/10.1007/s11250-022-03438-7
  • Dittmer KE, Thompson KG. Approach to investigating congenital skeletal abnormalities in livestock. Vet Pathol. 2015;52(5):851-61. https://doi.org/10.1177/030098581557
  • Moura E, Pimpão CT. Veterinary dysmorphology. In: Perez-Marin CC, editor. A Bird's-Eye View of Veterinary Medicine. Rijeka: InTech; 2012.
  • Kapakin AKT, Kutsal O. Tavuklarda deneysel amiloid artropatinin ışık mikroskobik ve elektron mikroskobik incelenmesi. Ankara Univ Vet Fak Derg. 2008;55(1):37-42.
  • Kostyunina O, Yaryshkin A, Bykova O, et al. Identification of lethal recessive genetic variants in Holstein cattle. In: BIO Web of Conferences. Vol. 108. EDP Sciences; 2024. p. 01002.
  • D'Soares CS, Muramoto C, Silva AW, et al. Chondrodysplasia Bulldog type in cattle in the state of Bahia, Brazil. Braz J Vet Pathol. 2020;13(2):536-541. DOI: 10.24070/bjvp.1983-0246.v13i2p536-541
  • Jacinto JGP, Häfliger IM, Letko A, Drögemüller C, Agerholm JS. A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle. Acta Vet Scand. 2020;62(1). https://doi.org/10.1186/s13028-020-00548-w
  • Agerholm JS, Menzi F, McEvoy FJ, Jagannathan V, Drögemüller C. Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1. BMC Vet Res. 2016;12:1-9. DOI: 10.1186/s12917-016-0739-z
  • Wurster F, Bassuino DM, Juffo GD, et al. Chondrodysplasia Dexter type in aborted bovine fetuses. Acta Sci Vet. 2012;40(3):1060-1064.
  • Muhammad SA, Sajid M, Shahzad AH, et al. Delivery of bulldog type achondroplasia calf after management of dystocia in Sahiwal cattle. Pak J Life Soc Sci. 2021;19:43-5.
  • Cabrera LC, McNabb BR, Woods ES, Cartoceti NA. Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow. J Am Vet Med Assoc. 2016;248:552-6. https://doi.org/10.2460/javma.248.5.552
  • Struck K, Dierks C, Braun M, et al. A recessive lethal chondrodysplasia in a miniature Zebu family results from an insertion affecting the chondroitin sulfate domain of aggrecan. BMC Genet. 2018;19:91. https://doi.org/10.1186/s12863-018-0678-8
  • Reinartz S, Schütz E, Jagannathan V, Leeb T, Drögemüller C. Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family. BMC Genomics. 2017;18:1-10.
There are 17 citations in total.

Details

Primary Language English
Subjects Veterinary Pathology
Journal Section Case Reports
Authors

Kübra Asena Terim Kapakin

Esra Manavoğlu Kirman 0000-0003-3877-7686

Serkan Yıldırım 0000-0003-2457-3367

Armagan Çolak

Publication Date June 30, 2025
Submission Date March 3, 2025
Acceptance Date May 27, 2025
Published in Issue Year 2025 Volume: 5 Issue: 1

Cite

AMA Terim Kapakin KA, Manavoğlu Kirman E, Yıldırım S, Çolak A. Case of Chondrodysplasia in a Holstein Calf. J Vet Case Rep. June 2025;5(1):20-23. doi:10.5281/zenodo.15755483

Content of this journal is licensed under a Creative Commons Attribution NonCommercial 4.0 International License

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