• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.3 no.2
• /
• pp.91-96
• /
• 2007

Cleidocranial dysplasia(CCD) is a congenital genetic disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs, CCD was reported by Morand at first in 1766, And later, it was named cleidocranial dysostosis, cleidocranial dysplasia, Marie-sainton syndrome and mutational dysostosis. It is autosomal dominant disorder and there is no prevalence between man and woman. Until recent days, mutation of Runx2 in chromosome6p21 has known to be a main factor causing CCD. The specific clinical features of CCD are aplasia or hypoplasia of one or both clavicles and incomplete closing of fontanels and cranial sutures. Dental manifestations include retention of deciduous teeth, delayed eruption of permanent teeth, supernumerary teeth and cyst. Because there is no mental retardation and physical disability in CCD patients, they usually can not recognize their dental abnormality by the time of abolescence. So, after exfoliation of deciduous teeth, they usually live with edentulous status. It usually drives CCD patients to suffer from esthetic and functional problem. For this reason, CCD patients must be early diagnosed and improved in their appearance as well as masticatory function. So, surgical removal of supernumerary teeth and orthodontic eruption of the natural permanent teeth at adequate time is necessary.

• The Journal of the Korean bone and joint tumor society
• /
• v.6 no.2
• /
• pp.106-111
• /
• 2000

Focal fibrocartilaginous dysplasia(FFCD) is an uncommon, benign condition associated with unilateral tibia vara among young children. FFCD has a typical plain radiographic finding, which has a concave radiolucent defect in the metadiaphyseal junction of medial aspect of the proximal tibia. The varus deformity occurs at the site of the lesion. Spontaneous remodeling and resolution of bony defect may be expected, but the corrective osteotomy may also be needed in some cases. The authors described a case of unilateral tibia vara caused by FFCD, diagnosed by excisional biopsy and treated with dome-shaped proximal tibial osteotomy and bone graft.

• Journal of Korean Orthopaedic Sports Medicine
• /
• v.8 no.1
• /
• pp.60-63
• /
• 2009

Trevor's disease, also known as dysplasia epiphysealis hemimelica, is rare abnormality characterized by aberrant cartilaginous overgrowth forming one half of epiphysis. Typically the patient is 2 to 14 years of age. Until now only six cases, including a case recurred after surgery, have been reported in Korea. A seven year-old boy complained pain of the left knee. However, any deformity of the knee was not seen. The plain radiographic findings showed multiple ossifications asymmetrically on the medial epiphysis of distal femur. The magnetic resonance imaging (MRI) clearly demonstrated the epiphyseal mass which contained low signal spots corresponding to calcified foci and abnormal cartilaginous overgrowth. We report one additional case with a brief review of literature with the MRI findings.

• Clinical and Experimental Pediatrics
• /
• v.49 no.7
• /
• pp.796-799
• /
• 2006

Multicystic dysplastic kidney and congenital cystic adenomatoid malformation of the lung are independent disorders, but both result from abnormal morphogenesis during embryogenesis. Congenital cystic adenomatoid malformation of the lung is associated with renal anomalies as well as other extrapulmonary anomalies and almost all cases with these anomalies are stillborn. We report a case of a 21-month-old male who was admitted with the impression of acute infectious gastroenteritis; multicystic dysplastic kidney with congenital cystic adenomatoid malformation of the lung was detected incidentally during evaluation.

• The korean journal of orthodontics
• /
• v.30 no.6 s.83
• /
• pp.739-745
• /
• 2000

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or mote ectodermal structures. Characteristic manifestations Include scanty hair and eyebrows, pigmented and hyperkeratinized skin around the eyes and mouth, frontal bossing with prominent supraorbital ridges, nasal bridge depression and dental anomalies. Hyperthermia or unexplained high fever as a result of the deficiency of sweat glands is common medical history. Findings of intraoral structures are anodontia or oligodontia with conical crowns. Consequently, generalized spacing and loss of vertical dimension of occlusion. Interdisciplinary approach has been performed to treat a 10-year old boy with ectodermal dysplasia. Orthodontists and a prosthodontist worked together on this case, and the result was satisfactory.

• Neonatal Medicine
• /
• v.16 no.2
• /
• pp.146-153
• /
• 2009

Purpose: The aim of this study is to investigate the current use of dexamethasone rescue therapy (DRT) for bronchopulmonary dysplasia (BPD). Methods: This is a retrospective study of 251 BPD patients managed in the neonatal intensive care units at Seoul National University Childrens Hospital and Seoul National University Bundang Hospital between March 2004 and August 2008. The demographic data and clinical characteristics of the mothers and infants were analyzed. The infants were compared based on DRT responsiveness. The DRT complications were investigated. Results: Ninety-three patients (37.1%) were classified with severe BPD, DRT was only given to patients with severe BPD. Dexamethasone was administered to 24 patients (9.6%) whose respiratory status had precluded extubation, which indicated that conventional BPD management had failed. Fourteen patients (58.3%) who received DRT were responsive. DRT non-responders required more oxygenation and more complicated with pulmonary arterial hypertension (PAH). Responder had shorter length's of hospitalization and lower mortality rates. High dose dexamethasone was no more effective in weaning neonates from the ventilatior than low dose dexamethasone. Sepsis was the most common complication of DRT. Conclusion: DRT is a valuable treatment for severe BPD ahead of PAH development. DRT should not be performed in BPD patients with PAH due to the possibility of complications.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.4 no.2
• /
• pp.82-87
• /
• 2008

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia and is caused by mutation in the CBAFA1 gene of 6p21 chromosome band. Patients with CCD express skeletal dysplasia such as hypoplastic/aplastic clavicle, brachycephalic skull, midface hypoplasia and moderate short stature. In addition to skeletal dysplasia, specific symptoms may appear in respiratory organs, auditory area, and the more distinguished, dentition. Dental findings include: delayed eruption of permanent tooth, multiple supernumerary tooth more than five, malocclusion, etc. In Patients presenting excessive SNT, complications of SNT could be prevented and will be managed through pertinently timed treatment such as tooth extraction, using space maintainer, and orthodontic management after early diagnosis. This case is about the treatment of eruption disorders in permanent teeth owing to SNT in CCD patients, who are three family members in the $3^{rd}$ generation inherited from maternal grandfather through atavism. We performed the extraction of numerous SNT and orthodontic treatment on them in this case. On evaluating panoramic and cephalometric views, some classical signs of skeletal dysplasia due to CCD were recognized in a pool of three patients, the clavicle was distinctively displayed in all patients.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.32 no.1
• /
• pp.49-54
• /
• 2005

Shell teeth, a rare dysplastic condition of dentin, was first described by Rushton in 1954. It is characterized by normal enamel, extremely thin dentin, correspondingly large pulp chambers, and shortened roots. This case report is of a male 3 years old. He is refered to the Chosun University dental hospital Pediatric Dentistry because of dental caries and dentin hypoplasia. Intra-oral examination showed attrition of all primary teeth. Radiographic examination showed that the pulps were extremely large with only a shell of surrounding hard tissue. The permanent premolars were missed congenitally. The diagnosis was shell teeth. Because of behavior problem, all dental treatment was undertaken with general anaesthesia. Extration, endodontic treatment and SS crown were performed. The patient has now been wearing the space maintainer and manages it well. The patient is seen intervals for supervision and follow-up care.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.28 no.1
• /
• pp.175-179
• /
• 2001

Regional odontodysplasia is a relatively rare condition in which both enamel and dentin are hypoplastic and hypocalcified. The result is localized arrest in tooth development. The etiology of regional odontodysplasia is uncertain, but, disturbance in vascular supply, somatic mutation, latent virus infection, trauma, hyperpyrexia, irradiation, nutrition, metabolic disorders and hereditary transmission are supported to be etiologic factors. Females are more often affected than males. (1.4 : 1). The maxillary arch is more often affected than the mandibular arch with the maxillary left quadrant being the most commonly involved. Affected teeth are hypoplastic, typically discolored yellow or yellowish brown, smaller in size and display a variety of surface marking including pitting and grooving. Radiographically, the teeth affected have been described to have a "ghost like" appearance or "fuzzy" appearance. Pulp calcification and denticles may be present within the pulp chambers of the affected teeth. In it's case, a 2 years old male visited for a treatment of uneruption of lower right teeth. Partial eruption of lower right deciduous central incisor and unerupted deciduous lateral incisor, deciduous canine and deciduous first molar showed severly delayed eruption state. On radiographic appearance, "Ghost like appearance", shortened root and opened apexes on lower right region were observed. It was suspected regional odontodysplasia with clinical and radiographic condition.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.28 no.1
• /
• pp.180-184
• /
• 2001

Cleidocranial Dysplasia(CCD) is an autosomal dominant human bone disease characterized by abnormal clavicles, patent sutures and fontanelles, and dental anomalies. Among dental anomalies, it is characterized that permanent dentition is severly disturbed due to multiple supernumerary teeth and abnormalities of tooth morphology. A eight-year-old female patient diagnosed as cleidocranial dysplasia visited in our hospital. Upon clinical oral exam, retained deciduous teeth, constriction of dental arch, anterior cross bite, and multiple dental caries were observed. In the dental panoramic radiograph, retained deciduous teeth and multiple supernumerary teeth in the maxilla and the mandible were found. In the cephalometric radiograph, open sutures and wormian bones were seen. In the chest P-A view absence of clavicles was observed. The cleidocranial dysplasia patients have eruption problems in permanent dentition both in regions with and without supernumerary teeth. The severely delayed or arrested eruption of permanent teeth has been ascribed to various factors : 1) The presence of multiple supernumerary teeth, 2) malformed roots with lack of cellular cementum, 3) the jaw bone being too dense, and 4) abnormal resorption of bone and primary teeth. Formation and maturation of primary teeth in cleidocranial dysplasia are normal, whereas the permanent dentition has various anomalies. Therefore, dentists should understand the development of dentition in cleidocranial dysplasia, and treat them in proper time.