Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study
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The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I.
Materials and methods
One hundred head magnetic resonance images were retrospectively analyzed from 41 MPS and 27 control individuals. The width, height and length of the maxilla and mandible were plotted against age and the means of controls, MPS I, MPS II and MPS III were statistically compared. To determine the effect of HSCT in MPS I, jaw morphology was compared between MPS I patients with full donor chimerism versus patients with mixed/no donor chimerism.
Maxillary dimensions were not statistically different between the MPS types. The height and length of the mandible were clearly smaller in MPS I as compared to those in controls, MPS II and MPS III. This was associated with progressive resorption of the mandibular condyles in MPS I, which was also observed in MPS II and VI, but not in MPS III or IVa. Whereas the success of HCST did not affect these changes, mandibular width was significantly smaller in MPS I individuals with full donor chimerism.
MPS I individuals have a smaller mandible as compared to control, MPS II and MPS III individuals due to progressive condylar degeneration. These abnormalities are also evident following successful HSCT.
Clinicians should be aware of specific differences in mandibular morphology and condylar involvement among the MPS subtypes.
KeywordsMucopolysaccharidosis MRI Craniofacial Cephalometry OSAS Hematopoetic stem cell transplantation
This research received no specific grant from any funding agency.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All analyses were performed retrospectively on routinely acquired images and all data were fully anonymized before analysis. Therefore, in accordance with the federal hospital laws (Hamburgisches Krankenhausgesetz) no approval by the local ethics committee was necessary.
For this type of study formal consent is not required.
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