• Imaging Science in Dentistry
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• 제34권3호
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• pp.165-169
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• 2004

Craniofacial dysostosis is considered to be one of rarely observed syndromes characterized by premature closing of all cranial sutures. The first patient was a 4-year-old male infant who had been complaining of empyema. Clinical findings showed exophthalmos, hypertelorism and facial asymmetry. Conventional radiographs demonstrated abscence of cranial sutures and underdeveloped maxilla. CT scan demonstrated the digital impressions of the inner surface of the cranial vault, enlarged and depressed sella turcica. The second patient was a 2-year-old female infant who had been complaining of facial deformity. Clinical findings showed hypertelorism and underdeveloped maxilla. Radiographs showed premature synostosis of all cranial sutures, depressed and enlarged sella turcica, and hypoplastic maxilla. 3 years after operation, her look improved. However, resurgery may be considered to decreasing intracranial pressure and for correction of facial deformity. Two interesting cases showing ‘cloverleaf’ skulls were presented.

• 대한치과의사협회지
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• 제19권4호통권143호
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• pp.307-307
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• 1981

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.5-7
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• 2016

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase ML II, recognizable at birth, often causes intrauterine growth impairment and sometimes the prenatal "Pacman" dysplasia. The main postnatal manifestations of ML II include gradual coarsening of neonatally evident craniofacial features, early cessation of statural growth and neuromotor development, dysostosis multiplex and major morbidity by hardening of soft connective tissue about the joints and in the cardiac valves. Fatal outcome occurs often before or in early childhood. ML III with clinical onset rarely detectable before three years of age, progresses slowly with gradual coarsening of the facial features, growth deficiency, dysostosis multiplex, restriction of movement in all joints before or from adolescence, painful gait impairment by prominent hip disease. Cognitive handicap remains minor or absent even in the adult, often wheelchair-bound patient with variable though significantly reduced life expectancy. As yet, there is no cure for individuals affected by these diseases. So, clinical manifestations and conservative treatment is important. This review aimed to highlight the extra-skeletal clinical problems in ML II and III.

• 대한소아치과학회지
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• 제11권1호
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• pp.249-254
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• 1984

This is a case report of Crouzon's disease as a kind of craniofacial dysostosis by premature closure of unilateral coronal suture, showed plagiocephalic skull. 5-year-old boy was visited for the treatment of dental caries and oral examination. Physical examination showed hypertelorism, internal strabismus, and saddle nose. Intraoral radiographs showed congenital missing of upper right and left deciduous and permanent lateral incisors. Cephalometric analysis showed shortening the posterior cranial base length, clockwise growth pattern and class III and open bite tendency. Posterior-anterior and submentovertex view showed multiple radiolucencies-digital impression on inner surface of cranial vault. Maxillo-facial and neuro-surgical treatment was required to improvement of facial esthetics and optic complications. Continuous examination was needed to the growth and development.