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Caprine beta-mannosidosis: phenotypic features.

K Kumar·M Z Jones·J G Cunningham·J A Kelley·K L Lovell
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Abstract

The clinical features of caprine beta-mannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities observed in all 10 live affected animals included an inability to rise from a recumbent position, moderate to marked intention tremor, eye movements resembling pendular nystagmus, clinical deafness, bilateral Horner's syndrome, carpal contractures, pastern joint hyperextension, thickened skin and to a varying degree, a dome-shaped skull. Subjective evaluation suggested that most animals had a decreased muscle mass. Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis.

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AnimalsCardiomegalyFemaleGoatsMaleMannosidasesNeurologic ManifestationsPhenotypePregnancyalpha-Mannosidosisbeta-MannosidaseComparative StudyJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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K Kumar, M Z Jones, J G Cunningham, J A Kelley, K L Lovell. 1986-03-22. Caprine beta-mannosidosis: phenotypic features.. https://doi.org/10.1136/vr.118.12.325

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