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.
Subject(s)
Malocclusion, Angle Class III/complications , Maxillofacial Development , Mucopolysaccharidosis VI/complications , Skull/abnormalities , Adolescent , Cephalometry , Child , Female , Humans , Longitudinal Studies , Retrospective StudiesSubject(s)
Maxillary Neoplasms/diagnosis , Sarcoma, Synovial/diagnosis , Biopsy , Combined Modality Therapy , Diagnosis, Differential , Diagnostic Imaging , Humans , Immunohistochemistry , Male , Maxillary Neoplasms/pathology , Maxillary Neoplasms/therapy , Sarcoma, Synovial/pathology , Sarcoma, Synovial/therapy , Young AdultABSTRACT
OBJECTIVES: Using a clinical survey, panoramic, cone-beam computed tomography (CBCT), and magnetic resonance (MR) imaging, this study was conducted to ascertain primary maxillofacial abnormalities in patients with mucopolysaccharidosis VI (MPS VI). STUDY DESIGN: Two patients previously diagnosed with MPS VI underwent clinical and imaging surveys (panoramic radiographs, CBCT, and MR imaging). RESULTS: Jaw involvement was present in all patients. The most prevalent findings were enlarged marrow spaces, osteopenia, dentigerous cyst-like follicles, effacement of the jaw structures, and osteosclerosis. This is the first study to describe temporomandibular joint (TMJ) involvement for MPS VI. CONCLUSIONS: CBCT and MR imaging were needed to observe features that were not clear in conventional radiographs. Both patients reported symptoms in the TMJ and demonstrated involvement during their examinations. A multicenter study is necessary to better document maxillofacial involvement in MPS VI.
