title: Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant.
abstract: OBJECTIVE
  The objective of the present study was to emphasise the oral and dental findings of a male patient with the Maroteaux-Lamy syndrome who successfully underwent bone marrow transplantation (BMT) at the age of 22 months.
  
  
  METHODS
  A 15-year-old boy was referred to the Dentistry Division of the Catholic University of Brasília, Brazil, for dental diagnosis. General characteristics of the Maroteaux-Lamy syndrome, such as a large head, a short neck, corneal opacity, an open mouth with macroglossia, enlargement of the skull and a long anteroposterior dimension, were observed. The patient had received the benefit of a BMT at an early stage. Therefore, characteristics were presented in a moderate form, except for the skeletal symptoms.
  
  
  CONCLUSIONS
  Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI, is a lysosomal storage disorder that is caused by a deficiency of arylsulphatase B, which leads to an accumulation of dermatan sulphate in tissues and its increased excretion in urine. The deposition of mucopolysaccharides leads to a progressive disorder involving multiple organs. It is a rare condition that is inherited as an autosomal recessive trait. The characteristic features of this disease include retardation in growth, a large head, a short neck, corneal opacity, typical facies and spinal abnormalities. The main dental findings of this syndrome include gingival hyperplasia, hypertrophy of the maxillary alveolar ridge, macroglossia, unerupted dentition, malocclusions and dentigerous cyst-like follicles. BMT is a therapeutic treatment that is given to permanently replace any disorder caused due to the deficiency of enzymes in patients with storage diseases.
authors.affiliation: Periodontics Division, Catholic University of Brasília, Brazil. mmgcarmo@gmail.com
authors.forename: Maria do Carmo
authors.initials: Mdo C
authors.lastname: Guimarães
authors.forename: Shirley Martins
authors.initials: SM
authors.lastname: de Farias
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Costa
authors.forename: Rivadávio Fernandes
authors.initials: RF
authors.lastname: de Amorim
mesh_terms: D000293:Adolescent; D016026:Bone Marrow Transplantation; D005885:Gingival Hyperplasia / Q000209:etiology; D006801:Humans; D007570:Jaw Cysts / Q000209:etiology; D008260:Macroglossia / Q000209:etiology; D008297:Male; D008437:Maxilla / Q000002:abnormalities; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000628:therapy; D024343:Open Bite / Q000209:etiology; D014071:Tooth Abnormalities / Q000209:etiology; D014097:Tooth, Unerupted / Q000209:etiology