The oral and maxillofacial manifestation and surgical consideration in Maroteaux Lamy syndrome (mucopolysaccharidosis VI): A case report
نویسندگان
چکیده
The role of the genetic disorders in maxillofacial manifestations is well documented. Maroteaux Lamy syndrome (mucopolysaccharidosis VI) is a metabolic and chromosomal abnormality which involving disturbances in mucopolysaccharide metabolism and storage of acid mucopolysaccharide in various tissues. The main factor for Maroteaux Lamy syndrome is defi ciency of arylsulfatase B. Deposition of mucopolysaccharides leads to a progressive disorder which has several oral and dental manifestations including condylar hypoplasia, long-coarse face, anterior open bite, cranial deformity, macroglossia, malposition teeth, gingival fi bromatosis and under-developed maxillary sinus. Also, a large head, short neck and corneal opacity are the main characteristic features.In this study a case of 4 years old girl with Maroteaux-Lamy syndrome with emphasis on oral and maxillofacial manifestations and practical surgical hints for correction of maxillofacial deformity introduced.
منابع مشابه
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...
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