Musladin-Lueke Syndrome in a Dog: Case Report

The aim of this study is to report the case of a 4-month-old Beagle dog diagnosed with Musladin-Lueke syndrome. The dog appeared to walk on the digits (“tiptoes”) with all limbs during ambulation and rigid extension of the carpus, elbow, tarsus, and knee joints during ambulation. Thickening of the f...

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Bibliographic Details
Published in:Topics in companion animal medicine 2022-11, Vol.51, p.100694, Article 100694
Main Authors: Carneiro, R.K., Gatti, G.T., Beck, R.C., Amadori, A., Oliveira, T.D., Feliciano, M.A.R., Alievi, M.M., Ferreira, M.P.
Format: Article
Language:English
Subjects:
Age
Animals
Beagle
canine
Carpus
Cartilage
Case reports
case studies
Chromosomes
clinical examination
Cryptorchidism
Deoxyribonucleic acid
Diagnosis
Disease
DNA
Dog Diseases - diagnosis
Dog Diseases - genetics
Dog Diseases - pathology
Dogs
Echocardiography
Elbow
Elbow (anatomy)
fur
Genetic disorders
genetics
Male
medicine
mobility restriction
Mutation
pets
Quality of Life
Saliva
swab
Syndrome
Thickening
Ultrasonic imaging
Walking
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Summary:The aim of this study is to report the case of a 4-month-old Beagle dog diagnosed with Musladin-Lueke syndrome. The dog appeared to walk on the digits (“tiptoes”) with all limbs during ambulation and rigid extension of the carpus, elbow, tarsus, and knee joints during ambulation. Thickening of the fur and auricular cartilage, reduction in radiocarpal, and tibiotarsal joint amplitude, macrocephaly, and lateralized eyes were noticed on physical examination. Echocardiography showed reduced mobility and altered (tortuous) valve morphology. Bilateral abdominal cryptorchidism was confirmed by ultrasonography. Musladin-Lueke syndrome was the presumptive diagnosis, based on the clinical signs presented. The diagnosis was confirmed after DNA testing performed by serial collection of saliva. This is the first paper that describes unprecedented cardiac and reproductive changes of Musladin-Lueke syndrome in which the dog was followed for 2 years, presenting a good quality of life.
ISSN:1938-9736
1946-9837
1876-7613
DOI:10.1016/j.tcam.2022.100694