Musladin-Leuke Syndrome (MLS), also named Chinese Beagle Syndrome, is a genetic disorder affecting Beagle dogs. It is due to a mutation in the ADAMTSL2 gene. The present report describes thefirst two cases of MLS syndrome in Italy. Two Beagle siblings were presentedfor evaluation of abnormal gait. Physical examination identified the typicalphenotype: A flat skull\ higher ear set, ear folds and slanted eyes. Upon orthopaedic examination an evident stiff gait with reduced range of motion was observed. The dogs showed a characteristic "ballerina-like" stance, resting on the ground only the digital cushion of the 3rd and 4th fingers. Increased ra- diopacity of the limb's soft tissues and mineralisation of the hockjoint capsule were detected by XRays and CT. MLS was diagnosed by genetic test performed on whole blood.

Sindrome di Musladin-Leuke del Beagle: Prima segnalazione in Italia

RASCHI, ALESSIO;MANNUCCI, TOMMASO;CARLUCCI, FABIO;CITI, SIMONETTA
2017-01-01

Abstract

Musladin-Leuke Syndrome (MLS), also named Chinese Beagle Syndrome, is a genetic disorder affecting Beagle dogs. It is due to a mutation in the ADAMTSL2 gene. The present report describes thefirst two cases of MLS syndrome in Italy. Two Beagle siblings were presentedfor evaluation of abnormal gait. Physical examination identified the typicalphenotype: A flat skull\ higher ear set, ear folds and slanted eyes. Upon orthopaedic examination an evident stiff gait with reduced range of motion was observed. The dogs showed a characteristic "ballerina-like" stance, resting on the ground only the digital cushion of the 3rd and 4th fingers. Increased ra- diopacity of the limb's soft tissues and mineralisation of the hockjoint capsule were detected by XRays and CT. MLS was diagnosed by genetic test performed on whole blood.
2017
Siracusa, Alessia; Raschi, Alessio; Mannucci, Tommaso; Matteini, Andrea; Carlucci, Fabio; Citi, Simonetta
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/860126
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