Bilateral Cranial Cruciate Ligament Rupture Treatment in a Dog Affected by Classical Ehlers-Danlos Syndrome
We report an 11-month-old Maltese dog that was diagnosed with cranial cruciate rupture. The dog also had Ehlers-Danlos syndrome, a hereditary disease that causes weakness of connective tissues. Genetic analysis of the dog revealed a new heterozygous missense variant in the COL5A1 gene encoding the c...
| Autores: | , , , , , , |
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| Formato: | artículo |
| Fecha de publicación: | 2025 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:325790 |
| Acesso em linha: | https://ddd.uab.cat/record/325790 https://dx.doi.org/urn:doi:10.3390/vetsci12121162 |
| Access Level: | acceso abierto |
| Palavra-chave: | Canis lupus familiaris Surgery Orthopedics Dermatology Genetics Collagen Skin Whole genome sequencing Hereditary Inherited |
| Resumo: | We report an 11-month-old Maltese dog that was diagnosed with cranial cruciate rupture. The dog also had Ehlers-Danlos syndrome, a hereditary disease that causes weakness of connective tissues. Genetic analysis of the dog revealed a new heterozygous missense variant in the COL5A1 gene encoding the collagen type V alpha 1 chain. An increased risk for cranial cruciate ligament rupture has been reported in human patients with Ehlers-Danlos Syndrome but not in dogs. We provide the first report of such an event in dogs and subsequent stifle stabilization. Ehlers-Danlos syndrome (EDS) is a congenital disorder affecting connective tissue. Patients diagnosed with EDS may present with joint instability, and in human medicine, an increased risk of cranial cruciate rupture has been described. A few therapeutic options for these patients have been described, with no evident superiority of one technique due to small study groups. Cranial cruciate rupture has never been described in a dog with EDS. This is a case report of an 11-month-old Maltese diagnosed with bilateral cruciate ligament rupture and classical EDS with a previously undescribed heterozygous COL5A1 missense variant that underwent stifle stabilization. |
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