• Journal of Chest Surgery
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• v.12 no.3
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• pp.191-196
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• 1979

Marfan syndrome which is complicated with spontaneous pneumothorax is a rare chance we can contact usually. There are many aspects of the clinical features in the Marfan syndrome such as ectopia lentis, cardiovascular anomalies, and skeletal anomalies. With the use of this paper, we report a rare case, Marfan syndrome complicated with spontaneous pneumothorax.

• Imaging Science in Dentistry
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• v.42 no.1
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• pp.55-60
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• 2012

Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

• The korean journal of orthodontics
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• v.45 no.4
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• pp.190-197
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• 2015

Objective: The aim of the study was to analyze the prevalence and distribution of ectopic eruption of the permanent maxillary first molar (EEM) in individuals scheduled for orthodontic treatment and to investigate the association of EEM with dental characteristics, maxillary skeletal features, crowding, and other dental anomalies. Methods: A total of 1,317 individuals were included and randomly divided into two groups. The first 265 subjects were included as controls, while the remaining 1,052 subjects included the sample from which the final experimental EEM group was derived. The mesiodistal (M-D) crown width of the deciduous maxillary second molar and permanent maxillary first molar, maxillary arch length (A-PML), maxillomandibular transverse skeletal relationships (anterior and posterior transverse interarch discrepancies, ATID and PTID), maxillary and mandibular tooth crowding, and the presence of dental anomalies were recorded for each subject, and the statistical significance of differences in these parameters between the EEM and control groups was determined using independent sample t -tests. Chi-square tests were used to compare the prevalence of other dental anomalies between the two groups. Results: The prevalence of maxillary EEM was 2.5%. The M-D crown widths, ATID and PTID, and tooth crowding were significantly greater, while A-PML was significantly smaller, in the EEM group than in the control group. Only two subjects showed an association between EEM and maxillary lateral incisor anomalies, which included agenesis in one and microdontia in the other. Conclusions: EEM may be a risk factor for maxillary arch constriction and severe tooth crowding.

• Journal of Yeungnam Medical Science
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• v.8 no.1
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• pp.246-251
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• 1991

In 1962, a case of "generalized skeletal dysplasia with multiple anomalies" was reported by Taybi as a new clinical syndrome. The most characteristic features of the syndrome seemed to be hearing loss, cleft palate and peculiar digital anomalies, so, the syndrome designated as otopalatodigital syndrome by Dudding, et al. Recently, The authors have experienced a case OPD syndrome who visited Yeungnam University Hospital with the chief complaint of hypernasality, and underwent pharyngoplasty for correction of VPI. We present here a new case and review the literature on the subject.

• Journal of Interdisciplinary Genomics
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• v.3 no.2
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• pp.30-34
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• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

• Journal of the korean academy of Pediatric Dentistry
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• v.51 no.1
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• pp.88-98
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• 2024

Patients with pediatric cancer often undergo multiple therapies, such as chemotherapy, radiation therapy, and stem cell transplantation. These treatments, while essential, can result in dental developmental issues, including hypodontia, microdontia, short roots, and delayed dental development. This report presents two cases of pediatric patients diagnosed with neuroblastoma who exhibited severe tooth mobility due to short roots as a complication of cancer treatment. Moreover, we investigated the conservative management of the patients' conditions using resin wire splints and orthodontic miniscrews for skeletal anchorage along with long-term follow-ups to evaluate their prognosis.

• Clinical and Experimental Pediatrics
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• v.58 no.7
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• pp.256-262
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• 2015

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

• Imaging Science in Dentistry
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• v.45 no.3
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• pp.187-192
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• 2015

Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.2
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• pp.112-115
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• 2010

Chemotherapy and radiotherapy proved conservative and effective in treating tumors. However, both the cancer therapies will also have aberrant effects on developing maxillofacial and dental organs of children. The purpose of this report is to describe the clinical cases of Disturbances of maxillofacial and dental development after Cancer therapy. The first case reported a 7-year-old female patient diagnosed at age 2 years with bilateral retinoblastoma, receiving chemotherapy and radiotherapy. She had agenesis of premolar, microdontia, short tapered teeth in lower anterior area and generalized root stunting. The second case presented a 12-year-old female patient treated with chemotherapy and radiotherapy for neuroblastoma in her early childhood. She presented with a class III malocclusion on a skeletal III base due to maxillary retrognathism. Contemporay oncology had improved survival of children with malignant disease. It will be needed prevention of these side effect after cancer therapy to improve the quality of life.

• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.317-324
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• 2015

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.