• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.4
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• pp.666-671
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• 2007

Williams syndrome is a rare congenital disorder characterized by multiple anomalies involving the cardiovascular system, connective tissue, and the central nervous system resulting in mental retardation, distinctive facial features, and cardiovascular disease. It is also known to present typical oral manifestation including dental malformations, agenesis of teeth, and malocclusion. Impaction of a permanent tooth due to its deviant eruption path was observed in this case. The aim of this article is to report oral manifestation of a girl with Williams syndrome and the following dental treatment procedure.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.136-138
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• 2008

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and mental retardation. However, hypothyroidism is not a common feature of TBS. There have been only three reported cases of TBS associated with hypothyroidism. We report the first case of TBS associated with hypothyroidism in Korea.

• Journal of Chest Surgery
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• v.8 no.1
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• pp.69-74
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• 1975

Twenty-nine cases of ventricular septal defect operated in this department during the period from 1969 to May 1975 were presented. Out of 29 cases, there were 20 cases of type II defects, 8 cases of type I, and one case of type III, and the last case was multiple defect. The anomalies associated with ventricular septal defect were eight in all; three patent ductus arteriosus, one atrial septal defect, one tricuspid insufficiency and an aortic insufficiency. Over all mortality was 17%. The causes of death were complete heart block in a case, respiratory distress due to excessive administration of morphine in one, low cardiac output in two and perforation of the aortic annulus after repair of the ventricular septal defect associated with aortic insufficiency.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.35-37
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• 2012

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.34-38
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• 2020

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.

• 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.

• Archives of Plastic Surgery
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• v.49 no.1
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• pp.55-58
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• 2022

In Van der Woude syndrome (VWS), a rare congenital disease, lower lip pits (LLPs) can cause an aesthetically significant deformity. Surgical treatment of LLPs is necessary if they cause recurrent inflammation or aesthetic problems. Intraoperatively, surgeons should keep in mind the possibility of deep extension of the sinus tract and the relative deficiency of the midline in VWS, which increases the risk of lip disfigurement. Herein, we emphasize the importance of using a tissue-preserving technique to improve aesthetic results in VWS patients with a sinus tract.

• 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.

• Geophysics and Geophysical Exploration
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• v.20 no.1
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• pp.25-32
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• 2017

We present a 3D SH-wave velocity model of the crust and uppermost mantle and seismic radial anisotropy beneath East Asia. The SH-wave velocity structure model was built using Love-wave group-velocity dispersion data from earthquake data recorded at broadband seismic networks of Korea, Japan, and China. Love-wave group-velocity dispersion curves were obtained by using the multiple filtering technique in the period range of 3 to 150 s for 3,369 event-station pairs. The inverted model using these data sets provides a crust and upper mantle SH-wave velocity structure down to 100 km depth. At 10 ~ 40 km depths SH-wave velocity beneath the East Sea is higher than beneath the Japanese island region. We estimated the Moho beneath the East Sea to be between 10 ~ 20 km depth, while Moho beneath the Korean Peninsula at around 35 km based on the depth where high-velocity anomalies are detected. We estimated the lithosphere-asthenosphere boundary beneath the East Sea to be at around 50 km based on the depth where strong low-velocity anomalies are observed. Widespread low-velocity anomalies are found between 50 ~ 100 km depth in the study region. Positive radial anisotropy ($V_{SV}$ > $V _{SH}$) is observed down to 35 km depth, while negative radial anisotropy ($V_{SV}$ > $V _{SH}$) is observed for deeper depth.

• The Journal of the Petrological Society of Korea
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• v.12 no.4
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• pp.155-169
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• 2003

In the northwest Okcheon metamorphic belt, the metaigneous rocks in the Gyemyeongsan Formation have wider chemical ranges for major, trace and REE elements compared with metaigneous rocks in the Munjuri Formation and do not represent bimodal igneous activity which is characteristic for a continental rifting. The metaigneous rocks in the Munjuri Formation are regarded as products of single magmatic evolution, whereas those in the Gyemyeongsan Formation may be formed through multiple magmatic episodes. The felsic metavolcanic rocks in the Gyemyeongsan Formation show weaker Eu negative anomalies compared with those in the Munjuri Formation but those in both formations show similar degrees of enrichment from LREE to HREE. The metabasites in the Munjuri Formation do not show Eu anomalies but those in the Gyemyeongsan Formation show both positive and negative Eu anomalies(0.59