• The Journal of the Korean dental association
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• v.13 no.1
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• pp.76-79
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• 1975

The patient, a 24 years old Korean male, had a protruding lower jaw and large tongue. His mandibular prognathism was corrected by L-shaped osteotomy, chin reduction and glossoplasty.

• Clinical and Experimental Pediatrics
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• v.53 no.1
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• pp.97-102
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• 2010

Lymphangioma is a rare, benign, and hamartomatous tumor of the lymphatic vessels that shows a marked predilection for the head and neck region. When this tumor occurs on the tongue or mouth floor or in the deep neck space, blockage of the efferent lymphatic vessels can result in secondary macroglossia. We report here two patients who showed unusual macroglossia from birth. Initially, there was no noticeable cervical or mandibular swelling. However, mandibular swellings were noted during follow-up examinations, which led to MRI scans on the two infant patients at 5 months and 5 weeks of age, respectively. Subsequently, both patients were diagnosed with lymphangioma or lymphangiohemangioma in the deep neck space.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.2
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• pp.223-227
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• 2004

Lymphangioma is a benign tumor of lymphatic vessels. The majority of cases are present at birth and 95% of the tumors aroused before the age of 10 years. Oral lymphangioma may occur at various sites but are most frequent on the anterior two thirds of the tongue, where they often result in macroglossia. The lesions present nodularity with gray and pink projections. In the present cases, all the patients who had the macroglossia combined with lymphangioma showed openbite and mandibular prognathism. The purpose of this paper was to report the dental and craniofacial findings of macroglossia combined with lymphangioma and review the pertinent literature through the cases.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.3
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• pp.374-380
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• 2010

Treacher Collins syndrome(TCS) is a rare, incurable condition occurring in approximately 1 of 25,000 to 50,000 births. It may occur as a spontaneous mutation out of genetically normal parents or it may be manifested as an autosomal dominant pattern. TCS is characterized by facial deformities such as, underdevelopment of the maxilla, mandible and zygoma, malocclusion, bilateral deformities of auricles, antimongoloid slant of the palpebral fissures. The syndrome is often associated with cleft lip and palate, ear malformations and hearing loss, short stature, and anomalies of the heart and skeleton. Respiratory difficulty associated with air way obstruction may also be observed, and there is considerable difficulty in airway management during general anesthesia. It is necessary that dentists provide safe dental treatments and guidelines to TCS patients by providing adequate understanding about the characteristics of the syndrome and proper ways of managements. The purpose of this study is to report the dental and medical characteristics of the patient who visited the Department of Pediatric Dentistry, Yonsei University for multiple dental caries treatment and to review the literatures of TCS.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.432-436
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• 2010

Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200-00 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.