Authors :
Preeti Yadav
Volume/Issue :
Volume 7 - 2022, Issue 2 - February
Google Scholar :
http://bitly.ws/gu88
Scribd :
https://bit.ly/3pElhSz
DOI :
https://doi.org/10.5281/zenodo.6330429
Abstract :
Morquio syndrome is a rare autosomal
recessive inherited disease of lysosomal storage defect
associated with multiorgan involvement and symptoms
are seen due to excessive accumulation of Glucose-aminoglycans in the affected sites. Its characteristic features are
extremely abnormal gait, short stature, short neck, and
macrocephaly which can be accompanied with high level
of GAG KS in urine during urine analysis and
atlantoaxial subluxation and other characteristic
radiographic features for proper diagnosis. Many oral
manifestations are associated with this disease like
hypoplastic enamel, abnormal tooth anatomy,
macroglossia, temporomandibular joint defect, therefore
dental intervention is necessary at an early stage but there
are many features which might interfere in normal dental
treatment, that’s why detailed knowledge about this
syndrome will help dentists to handle these patients more
efficiently.
Keywords :
Morquio Syndrome, Lysosomal Defect, Mucopolysaccharidosis, Multiorgan Involvement, Oral Manifestations.
Morquio syndrome is a rare autosomal
recessive inherited disease of lysosomal storage defect
associated with multiorgan involvement and symptoms
are seen due to excessive accumulation of Glucose-aminoglycans in the affected sites. Its characteristic features are
extremely abnormal gait, short stature, short neck, and
macrocephaly which can be accompanied with high level
of GAG KS in urine during urine analysis and
atlantoaxial subluxation and other characteristic
radiographic features for proper diagnosis. Many oral
manifestations are associated with this disease like
hypoplastic enamel, abnormal tooth anatomy,
macroglossia, temporomandibular joint defect, therefore
dental intervention is necessary at an early stage but there
are many features which might interfere in normal dental
treatment, that’s why detailed knowledge about this
syndrome will help dentists to handle these patients more
efficiently.
Keywords :
Morquio Syndrome, Lysosomal Defect, Mucopolysaccharidosis, Multiorgan Involvement, Oral Manifestations.
