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The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report.

Abstract

Maroteaux-Lamy syndrome is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. The basic defect in Maroteaux-Lamy syndrome is a deficiency of arylsulfatase B, which leads to accumulation of dermatan sulfate in tissues and their urinary excretion. The deposition of mucopolysaccharides leads to a progressive disorder involving multiple organs that often results in death in the second decade of life. This disease, which has several oral and dental manifestations, is first diagnosed on the basis of clinical findings. A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic features. Dental complications can be severe and include unerupted dentition, dentigerous cystlike follicles, malocclusions, condylar defects, and gingival hyperplasia. An 11-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, with special emphasis on the oral manifestations.

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  • Authors+Show Affiliations

    ,

    Faculty of Dentistry, Department of Pedondontics, Ege University, Bornova, Izmir, Turkey.

    , , , , ,

    Source

    MeSH

    Alveolar Process
    Child
    Consanguinity
    Dentigerous Cyst
    Gingival Hyperplasia
    Humans
    Macroglossia
    Male
    Mouth Abnormalities
    Mucopolysaccharidosis VI
    Open Bite
    Palate, Hard
    Pedigree
    Tooth Abnormalities
    Tooth, Unerupted

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    16632276

    Citation

    Alpöz, Ali Riza, et al. "The Oral Manifestations of Maroteaux-Lamy Syndrome (mucopolysaccharidosis VI): a Case Report." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, vol. 101, no. 5, 2006, pp. 632-7.
    Alpöz AR, Coker M, Celen E, et al. The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(5):632-7.
    Alpöz, A. R., Coker, M., Celen, E., Ersin, N. K., Gökçen, D., van Diggelenc, O. P., & Huijmansc, J. G. (2006). The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 101(5), pp. 632-7.
    Alpöz AR, et al. The Oral Manifestations of Maroteaux-Lamy Syndrome (mucopolysaccharidosis VI): a Case Report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(5):632-7. PubMed PMID: 16632276.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. AU - Alpöz,Ali Riza, AU - Coker,Mahmut, AU - Celen,Elif, AU - Ersin,Nazan Kocatas, AU - Gökçen,Damla, AU - van Diggelenc,Otto P, AU - Huijmansc,Jan G M, Y1 - 2006/03/03/ PY - 2004/09/13/received PY - 2005/05/26/revised PY - 2005/06/19/accepted PY - 2006/4/25/pubmed PY - 2006/5/10/medline PY - 2006/4/25/entrez SP - 632 EP - 7 JF - Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics JO - Oral Surg Oral Med Oral Pathol Oral Radiol Endod VL - 101 IS - 5 N2 - Maroteaux-Lamy syndrome is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. The basic defect in Maroteaux-Lamy syndrome is a deficiency of arylsulfatase B, which leads to accumulation of dermatan sulfate in tissues and their urinary excretion. The deposition of mucopolysaccharides leads to a progressive disorder involving multiple organs that often results in death in the second decade of life. This disease, which has several oral and dental manifestations, is first diagnosed on the basis of clinical findings. A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic features. Dental complications can be severe and include unerupted dentition, dentigerous cystlike follicles, malocclusions, condylar defects, and gingival hyperplasia. An 11-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, with special emphasis on the oral manifestations. SN - 1528-395X UR - https://www.unboundmedicine.com/medline/citation/16632276/The_oral_manifestations_of_Maroteaux_Lamy_syndrome__mucopolysaccharidosis_VI_:_a_case_report_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1079-2104(05)00565-2 DB - PRIME DP - Unbound Medicine ER -