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Facial features in hereditary hearing loss and beta-mannosidosis

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Photos of a 26-year-old woman (proband II/1 from a Slovak family) with hereditary hearing loss and beta-mannosidosis. The broad nose is visible; no angiokeratomas on the patient were visible. (Source: Safka Brozkova D, Varga L, Uhrova Meszarosova A, et al. Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. Orphanet J Rare Dis 2020;15(1):222. Creative Commons Attribution 4.0 International License. Edited by Douglas J Lanska MD MS MSPH to improve sharpness and contrast.)