title: Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow.
abstract: CASE DESCRIPTION A 2-year-old primiparous miniature Scottish Highland cow with an unknown breeding date was evaluated for suspected hydrops. CLINICAL FINDINGS 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. TREATMENT AND OUTCOME 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. CLINICAL RELEVANCE 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.
authors.forename: L
authors.initials: L
authors.lastname: Catalina Cabrera
authors.forename: Bret R
authors.initials: BR
authors.lastname: McNabb
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Woods
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Cartoceti
authors.forename: Rosie C
authors.initials: RC
authors.lastname: Busch
mesh_terms: D053674:Aggrecans / Q000235:genetics; D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000196:embryology* / Q000235:genetics; D002585:Cesarean Section / Q000662:veterinary; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005333:Fetus / Q000002:abnormalities; D006579:Heterozygote; D006849:Hydrocephalus / Q000150:complications / Q000196:embryology / Q000235:genetics / Q000662:veterinary; D015160:Hydrops Fetalis / Q000235:genetics / Q000662:veterinary*; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000196:embryology / Q000235:genetics / Q000662:veterinary*; D050497:Stillbirth / Q000235:genetics / Q000662:veterinary
chemical_list: D053674:Aggrecans