Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report. (3rd May 2018)

• Record Type: Journal Article
• Authors: Ferreira dos Reis, Moema; Pinheiro, Lucas Rodrigues; Pinheiro, Maria das Graças Rodrigues; de Almeida, Haroldo Amorim; Feio, Patrícia do Socorro Queiroz; de Almeida, Sâmia Cordovil; de Souza, Isabel Cristina Neves; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein; Cavaleiro, Rosely Maria dos Santos; Pinheiro, João de Jesus Viana; da Silva, Luiz Carlos Santana
• Is Part Of: Special care in dentistry. Volume 38:Number 3(2018)
• Page Start: 176
• Page End: 184
• Publication Date: 2018-05-03
• Subjects: glycosaminoglycans -- birth defects -- cephalometry; People with disabilities -- Dental care -- Periodicals; Older people -- Dental care -- Periodicals; Hospital dental service -- Periodicals; Dental Care for Disabled -- Periodicals; Dental Service, Hospital -- Periodicals; Geriatric Dentistry -- Periodicals; 617.60087
• DOI: 10.1111/scd.12290
• Languages: English
• ISSNs: 0275-1879

Abstract

ABSTRACT: Objective: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12‐13) leading to an N‐acetylgalactosamine‐sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age. Study Design: Skull lateral teleradiography and cephalometric tracings were performed. The measurements were assessed in the anteroposterior and vertical directions based on protocols by McNamara and Usp/Unicamp and compared to the normal reported ranges. Results: A similar skeletal class III malocclusion was observed in both patients. The jaw was retruded, the anterior skull base decreased, and the mandibular body was normal or larger than normal. The vertical growth direction differed between the patients; one was hyperdivergent, while the other was hypodivergent. Conclusions: By understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.