• 대한치과교정학회지
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• 제47권6호
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• pp.384-393
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• 2017

Fusion of teeth is a developmental anomaly. It occurs at the stage of tooth formation, which determines the shape and size of the tooth crown, when one or more teeth fuse at the dentin level during the morphodifferentiation of the dental germs. Such teeth show macrodontia and may cause crowding, as well as esthetic and endodontic problems. In this article, we report a rare case of a maxillary central incisor fused to a supernumerary tooth showing labial and palatal talon cusps, which was orthodontically moved across the midpalatal suture. A 13-year-old Caucasian boy sought treatment for the unesthetic appearance of his maxillary central incisor and anterior crowding. He was rehabilitated successfully via a multidisciplinary approach involving orthodontic, nonsurgical endodontic, periodontal, and prosthodontic treatments. After a 26-month treatment period, the patient's macroesthetics and microesthetics were improved. The overall improvement of this macrodontic tooth and its surrounding tissues through multidisciplinary treatment was documented using cone-beam computed tomography.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.39-42
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• 2019

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5-9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.

• 대한소아신경학회지
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• 제26권4호
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• pp.272-275
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• 2018

KBG 증후군은 특징적인 얼굴 기형 및 발달 장애, 저 신장 등을 보이는 희귀한 질환이며, ANKRD11유전자의 변이가 KBG 증후군을 일으킨다고 알려져 있다. 그 임상 양상의 스펙트럼은 넓은 편이며, 발달 장애와 신경학적 이상의 경우 개인마다 다양한 정도로 보고되고 있다. 본 증례의 환자들 역시 서로 다른 정도의 발달 장애를 보였으며, 그 중 더 심한 정도의 발달 장애를 가진 환자에서는 뇌전증이 동반되었다. 기존의 KBG증후군의 진단 기준에서 macrodontia는 매우 중요한 요소였으며, 대부분의 KBG 증후군 환자에서 나타난다고 보고되었다. 본 증례의 환자들은 발달장애를 보여 시행한 diagnostic exome sequencing을 통해 ANKRD11 유전자 이상을 확인하였지만 macrodontia는 관찰되지 않았다. 이는 KBG 증후군이 현재까지 밝혀진 것 보다 더 흔할 수 있으며, 특징적인 얼굴 기형이 없는 경우에도 발달장애가 있는 환자들에서는 더욱 적극적인 유전자 검사를 시행하여 KBG 증후군을 진단 할 필요가 있음을 시사한다.

• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

• 대한소아치과학회지
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• 제23권2호
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• pp.429-449
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• 1996

An objective definition of the anomaly is not avaliable and most investigators define the term differently or fail to describe their criterion. Because dental anomaly may lead to many complications, early detection and diagnosis of dental anomalies are essential steps in the evaluation of the child patient and in treatment planning. These procedures require detailed medical and dental histories, through clinical examination and the use of radiographs. So, this study was designed to find out the prevalence of dental anomalies. The clinical and roentgenographic examination was undertaken for 8,054 children at age from 0 to 15 years and statistical analysis was done. The results were as follows : 1. Among the examined subjects, 2,134 subjects(26.5%) showed dental anomalies. The prevalence of individual dental anomalies were as follows : supernumerary teeth 15.6%, congenitally missing teeth 6.6%, fusion 2.2%, odontoma 0.35%, microdontia 1.2%, macrodontia 0.05%, gemination 0.22%, talon cusp 0.36%, dens evaginatus 0.24%, dens invaginatus 0.15%, dilaceration 0.27%, taurodontism 0.09%, abnormal tooth position 1.7%, natal & neonatal teeth 0.92%, amelogenesis imperfecta 0.01%. 2. Significant correlations between the groups with individual dental anomalies were as follows : between group I and other groups, there was negative correlation, especially group I and group II. And the correlation coefficient between male and female showed differences. 3. For the supernumerary teeth group, the prevalence of male was higher than female(p<0.001). While for the congenitally missing teeth, macrodontia, microdontia, abnormal tooth position group, the prevalence of female was greater than male(p<0.001). 4. For the congenitally missing teeth group, the mandibular primary lateral incisor showed the highest incidence in primary dentiton, while mandibular lateral incisor in permanent dentition. In the mandible(72.5%), this site showed higher prevalence than in maxilla. In the case with deciduous congenitally missing teeth, the prevalence of successive permanent congenitally missing teeth was about 33.9%, the incidence was highest in mandibular lateral incisors. 5. Most supernumerary teeth existed on middle area and showed inverted position and unerupted state. In addition, supernumerary teeth showed higher incidence on maxilla (99.3%). 6. In the case with deciduous fused teeth, the prevalence of successive permanent congenitally missing teeth was 39.9%, while that of successive permanent fused teeth was 2.7%. And the highest rate of the prevalence (40.3%) appeared in fusion of mandibular deciduous lateral incisor and canine. 7. In the case of odontoma, the prevalence was higher in maxilla(78.6%) and anterior region(82.7%) than mandible and posterior region.

• 대한소아치과학회지
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• 제31권3호
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• pp.481-485
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• 2004

Rabson Mendenhall syndrome은 Rabson과 Mendenhall에 의해 1955년 처음 발표된 증후군으로서, 심한 insulin resistance를 보이는 희귀한 상염색체 열성 유전성 질환이다. Insulin receptor의 돌연변이나 insulin이 작용하는 다른 target cell의 결함에 의해 나타나며, 일반적인 증상으로는 흑색가시세포종(acanthosis nigricans), 다모증(hypertrichosis), 손발톱 비대(onychauxis), 성장 지체 (growth retardation), 성 조숙(precocious puberty), 생식기의 비대, 팽만된 복부(protuberant abdomen), 건성 피부(xerotic skin) 등이 나타난다. 악안면 영역에서는 치아의 이형성, 거친 얼굴의 피부, 하악 전돌, 균열 혀 (fissured tongue)와 같은 특징적 증상이 나타난다. 이에 본 증례에서는 Rabson Mendenhall syndrome으로 본원에 내원한 4세 환아에게 관찰된 치과적 특징들에 관하여 보고하는 바이다.

• 대한장애인치과학회지
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• 제6권1호
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• pp.15-18
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• 2010

1. 본 증례는 Strurge Weber syndrome으로 진단받은 11세 여아로 SWS의 3요소 중 연수막 맥관종, 안구이상의 소견을 보이고 있었다. 2. SWS는 여러 분야의 다원적 접근 및 치료계획이 필요하며, 여러 가지 구강 내 증상들을 동반할 수 있으므로, 구강 위생 교육과 정기적 구강검진을 실시하여 환자의 구강 건강을 증진시킬 수 있고 그들의 삶의 질을 향상시킬 수 있다는 점에서 치과의사의 역할이 중요하며 따라서 이 질병의 특징과 증상들에 대하여 잘 숙지할 필요가 있다. 3. SWS 환자에서 발치나 치은이나 구강점막의 외과적 시술이 시행되는 경우 심한 출혈을 일으킬 수 있으므로 세심한 주의를 필요로 한다.