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. 2022 Nov;188(11):3369-3373.
doi: 10.1002/ajmg.a.62934. Epub 2022 Aug 12.

Phenotypic expansion of ARSK-related mucopolysaccharidosis

Cecilie F Rustad  1 , Trine E Prescott  2 , Else Merckoll  3 , Erle Kristensen  4 , Cathrin L Salvador  4 , Hilde Nordgarden  5 , Kristian Tveten  2
Affiliations

Phenotypic expansion of ARSK-related mucopolysaccharidosis

Cecilie F Rustad et al. Am J Med Genet A. 2022 Nov.
No abstract available

Keywords: ARSK; arylsulfatase K; mucopolysaccharidosis; skeletal.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Sector‐shaped osteonecrosis of femoral heads are seen in Individual 1 at age 7 years (a), 9 years (b), and in Individual 2 at age 10 years (c). Slight anterior wedging of vertebrae in Individual 1 at age 9 years (d) and in Individual 2 at age 10 years (e). Normal wrist in Individual 1 at age 2 years (f), defective ossification of carpals in Individual 1 at age 9 years (g), and at age 11 years in Individual 2 (h). In Individual 1, osteochondral lesions of metacarpal heads are visible (g). Osteochondral lesions of both patellae at age 9 years in Individual 1 (i, j). Vertical striae in the metaphyses in Individual 1 at age 9 years (k) and in Individual 2 at age 10 years (l)
See this image and copyright information in PMC

References

    1. Barker, D. , & Welbury, R. R. (2000). Dental findings in Morquio syndrome (mucopolysaccharidosis type Iva). ASDC Journal of Dentistry for Children, 67(6), 431–433. - PubMed
    1. Mendelsohn, N. J. , Wood, T. , Olson, R. A. , Temme, R. , Hale, S. , Zhang, H. , Read, L. , & White, K. K. (2013). Spondyloepiphyseal dysplasias and bilateral legg‐calvé‐perthes disease: Diagnostic considerations for mucopolysaccharidoses. JIMD Reports, 11, 125–132. 10.1007/8904_2013_231 - DOI - PMC - PubMed
    1. Raff, M. L. , & Byers, P. H. (1996). Joint hypermobility syndromes. Current Opinion Rheumatology, 8(5), 459–466. 10.1097/00002281-19960900-00012 - DOI - PubMed
    1. Ribeiro, E. M. , Fonteles, C. S. , Freitas, A. B. , da Silva Alves, K. S. , Monteiro, A. J. , & da Silva, C. A. (2015). A clinical multicenter study of orofacial features in 26 brazilian patinets with different types of mucoploysaccharidosis. The Cleft palate‐Craniofacial Journal, 52, 352–358. 10.1597/13-204 - DOI - PubMed
    1. Verheyen, S. , Blatterer, J. , Speicher, M. R. , Bhavani, G. S. L. , Boons, G. J. , Ilse, M. B. , Andrae, D. , Sproß, J. , Vaz, F. M. , Kircher, S. G. , Posch‐Pertl, L. , Baumgartner, D. , Lübke, T. , Shah, H. , al Kaissi, A. , Girisha, K. M. , & Plecko, B. (2021). Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. Journal of Medical Genetics, 1‐8. 10.1136/jmedgenet-2021-108061 - DOI - PMC - PubMed

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