• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.29 no.2
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• pp.507-521
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• 1999

Osteopetrosis is an uncommon hereditary bone disorder whose prominent radiologic feature characterized by increased bone density. The authors reported a 7-year-old male patient who referred from local dental clinic for dental problems such as early exfoliation of deciduous teeth(#54,73,83) and delayed eruption of permanent teeth(#31.41.36.46). The patient appeared as a poorly developed. Dental X-ray films showed early exfoliation of deciduous teeth, delayed eruption of permanent teeth, and rampant caries. Lateral view of skull demonstrated increased opacity of calvarium, facial bones, and skull base. Generally the skeletal density is greatly increased throughout all bones. Facial CT showed poor development of paranasal sinuses and mastoid air cells. No hematopoietic and neurologic complications such as anemia, thrombocytopenia, blindness and deafness were found. Also mental retardation was not found. The final diagnosis of this case was a osteopetrosis tarda. Sometimes patient with osteopetrosis tarda may be developed dental problems prior to severe systemic symptoms. The dentist can be the first clinician to see the patient. It is very important for the dentist to have the knowledge of the osteopetrosis and to care the patient's dental problems to prevent complication such as osteomyelitis of jaws.

• Journal of Audiology & Otology
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• v.25 no.4
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• Korean Journal of Audiology
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• v.25 no.4
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• Archives of Plastic Surgery
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• v.36 no.4
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• pp.481-484
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• 2009

Purpose: Cleidocranial dysostosis is a rare hereditary disorder affecting bones that develop by intramembranous formation. The typical features include excessive growth of transverse diameter of the skull, hypoplastic clavicles, low height and characteristic facial features. Methods: A 28 years old female patient visited by frontal area depression. The diagnosis was performed by computed tomographic study and radiographic imaging. The patient has widely opened anterior fontanelle, partial fused metopic suture, multiple wormian bone and supernumenary impacted teeth. Under the coronal incision, we exposed depressed frontal area and corrected with Medpor block carving. Results: Postoperatively, frontoparietal skull was aestheticlly improved and she was satisfied with the results. Conclusion: Authors report a case of cleiodocranial dysostosis who has been done correction of abnormal skull shape by Medpor$^{(R)}$ insertion.

• Imaging Science in Dentistry
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• v.48 no.4
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• pp.283-287
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• 2018

Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterized by hyperostosis of the craniofacial bones and flared metaphyses of the long bones. Although some reports have described the dentomaxillofacial characteristics of CMD, including increased density of the jaw, malocclusion, and delayed eruption of the permanent teeth, only a few studies have reported the distinct imaging features of CMD on panoramic radiography. This report presents 2 cases of confirmed CMD patients with an emphasis on panoramic imaging features. The patients' images revealed hyperostosis and sclerosis of the maxilla and mandibular alveolar bone, but there was no change in the mandibular basal bone. In both cases, the mandibular condyle heads exhibited a short clubbed shape with hyperplasia of the coronoid process. For patients without clear otorhinolaryngological symptoms, common radiologic features of CMD could be visualized by routinely-taken panoramic radiographs, and further medical examinations and treatment can be recommended.

• The Journal of the Korean bone and joint tumor society
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• v.20 no.2
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• pp.99-103
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• 2014

Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder characterised by a variety of different tumor types in children and young adults. That contains with a germline mutation in the tumor suppressor gene Tumor Protein p53 (TP53). That is extremely rare. Furthermore, this is sometimes overlooked. Here, we report a case of LFS which was confirmed by mutational analysis of the p53 gene. Also, literature review is intended to improve understanding of this disease entity.

• Imaging Science in Dentistry
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• v.47 no.2
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• pp.129-133
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• 2017

Dentinogenesis imperfecta is a dominant autosomal hereditary disorder of dentin formation that affects the deciduous and permanent teeth. Its etiology is characterized by inadequate cell differentiation during odontogenesis. The clinical characteristics of dentinogenesis imperfecta are discolored teeth with a translucency that varies from gray to brown or amber. Radiographically, the teeth exhibit pulp obliteration, thin and short roots, bell-shaped crowns, and periapical bone rarefaction. The aim of this report was to present a case of dentinogenesis imperfecta type II that was followed up over a 17-year period. This report also presents scanning electron microscopy images of the enamel and dentin, showing that both were altered in the affected teeth. The disease characteristics and the treatments that were administered are reported in this study to guide dentists with respect to the need for early diagnosis and adequate follow-up to avoid major sequelae.

• Journal of Chest Surgery
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• v.13 no.2
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• pp.149-153
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• 1980

Von Recklinghausen's disease is a systemic hereditary disorder with varied manifestations in bone, soft tissue, nervous system, and skin, the most common of which is the developement of multiple, small, cutaneous tumors with a characteristic histologic picture. Tumors develop after birth and before puberty in most cases, and they increase in number until old age. Malignant neoplasms that complicate multiple neurofibromatosis include gliomas of the optic nerve, astrocytomaas of the cerebral and cerebellar hemispheres, and sarcomas of peripheral nerves (femoral, tibial and intercostal nerves) and somatic soft tissues. Little attention has been paid to the presence of cystic lung disease in association with neurofibromatosis. Currently, most think of thoracic involvement in neurofibromatosis in terms of posterior mediastinal neuroma, pheochrocytoma, meningocele or, less commonly parenchymal pulmonary neurofibromas. Author have experienced 2 cases of Von Recklinghausen's disease. One case developed a hyge malignant Schwannoma in the parietal pleura of left 4th intercostal space and multiple benign neurofibromas (two in intercostal spacees and one in the neck) , and the other has several episodes of pneumothorax resulting from diffuse cystic lung disease which required closed thoracotomy drainage.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.4
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• pp.626-632
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• 2001

Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structures. Intraorally, common findings are anodontia or oligodontia, conical teeth, and, consequently, generalized spacing. This case presented the oral rehabilitation of a child with hypohidrotic ectodermal dysplasia. Oral rehabilitation is important from functional, esthetic, and psychologic perspectives. Due to the absence of teeth, the volume of alveolar bone and its growth are decreased, resulting in a loss of vertical dimension and protuberant lips. The treatment involved increasing the patient's vertical dimension of occlusion, fabricating a maxillary partial denture, and using magnets to help retain the mandibular partial denture. A 5-year 7-month old Korean boy was referred to the pediatric department for examination, evaluation and treatment of his disorder. we used magnets on '73 and '83 for enhanced retention of a mandibular overdenture. The magnet used in this case was the Magfit system(GC Co., Japan).

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.1
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• pp.127-133
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• 1998

An impacted tooth is defined pathologically as a tooth that remains under the mucosa of inside bone without eruption of the crown after a specific period of eruption. Clinically, the term includes those teeth, even before eruption period, that are not expected to erupt due to shape, position and alignment of tooth and lack of space. Canine is prone to impaction more than other teeth because it has the longest time to develop and a complex route from the place of formation to the site of eruption. The impaction incidence of maxillary canine is repoted 0.92$\sim$3.3% (Ferguson, 1990). In 1995 Orton reported that the incidence was 0.92$\sim$2.2% and palatal impaction was more frequent than labial impaction(85%:15%). In 1969 Johnston presented it was more common to woman than to man(3:1). The etiology includes systemic disease such as endocrine disorder, cleidocranial dysostosis, irradiation, Crouzon syndrome, ricketts, facial hemihypertrophy and hereditary and local problems such as ectopic position of the tooth, distance of tooth from its place of eruption, malformation of the tooth, presence of supernumerary teeth, trauma of tooth germ, infection of tooth germ, displacement of tooth germ or tooth by a neoplasm, ankylosis, overretention of deciduous predecessor, lack of space for the tooth in the dental arch and mucosal barrier due to gingival fibrosis. The maxillary canine is especially important as it has the longest root, provides guidance for lateral movement of the mandible and masticatory function and assumes an important role esthetically as it is located at mouth angle. If left untreated, it may cause migration and external, internal resorption of adjacent teeth, loss of arch length, formation of dentigerous cyst or tumors, infection and referred pain as well as malposition of the tooth. Therefore, periodic examination of the development and eruption of the maxillary canine is especially important in a growing child. This case study presents the results of treatment of palatally impacted maxillary canine utilizing surgical exposure and orthodontic tooth movement on patients visiting SNUDH dept. of pediatric dentistry.