• Maxillofacial Plastic and Reconstructive Surgery
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• v.18 no.4
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• pp.741-745
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• 1996

AVMs is not a neoplasm, but a congenital developmental anomalies.$^{5)}$ In oral and maxillofacial area, the high recurrence rate and more facial disfigurement give a difficult problem to surgen and patient.$^{8)}$ Conventional treatment modality nowadays is presurgical embolization and surgical resection. In treatment planning, we consider the possibility of complete surgical resection and the esthetics of soft tissue reconstruction. But, two things are very difficult to achieve. We present a patient with AVMs in left upper lip, he had presurgical embolization with Ivalon and Bucrylate, and conservative surgical procedure. So we present this possible treatment modality.

• Journal of Korean Neurosurgical Society
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• v.37 no.2
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• pp.137-140
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• 2005

Most vascular disorders tend to affect both the brain and heart, and among them, a clinical syndrome constituting cerebral aneurysm and aortic coarctation(AC) has been well recognized. Persistent hypertensive impact to the cerebral vasculature with developmental anomaly of the neural crest, precursor of ectomenchymal, would be closely associated with development of the cerebral aneurysm in AC. Gonadal steroid hormone, a guardian of the cardiovascular system, has been known for its protective effects on the vascular wall. Gonadal steroid hormone (androgen) insensitivity such as 46,XY female syndrome may increase the risk of hypertention and subsequent vascular anomalies. The authors report on a 46-year-old 46,XY female patient with AC who underwent surgical clipping of the ruptured cerebral aneurysm. Clinical implications and proposed pathogenetic mechanisms of aneurysm in this intersex syndrome are presented and discussed.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.29 no.3
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• pp.182-185
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• 2003

Hemangiolymphangioma is a malformation of both lymphatic and blood vessels. While a hemangiolymphangioma is a benign lesion, its propensity to invade underlying tissues and to recur locally distinguishes it from the simple lymphangioma or hemangioma. Hemangiolymphangiomas are uncommon developmental anomalies and intraosseous hemangiolymphangioma of the mandible is a relatively rare condition: when it occurs, the clinical and radiographic presentation are often nonspecific. The author presents a case of hemangiolymphangioma in mandible.

• Korean Journal of Bronchoesophagology
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• v.3 no.2
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• pp.318-322
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• 1997

Lingual thyroid is the term applied to a mass of ectopic thyroid tissue located on the base of the tongue in the midline. It may be found anywhere between the circumvallate papillae and the epiglottis. It is believed to be caused by developmental anomalies involving the descent of the embryologic gland anlage from its position posterior to the tuberculum impar to its normal pretracheal location between week 3 and week 7 of embryologic development. Differential diagnosis of the lingual thyroid would include lingual tonsillar hypertrophy, vallecular cyst, thyroglossal duct cyst, epidermal cyst, lymphoma. Lingual thyroid is found in approximately 1 in 100,000 people, and affected individuals have no other thyroid tissue in 70% to 100% of cases. Recently, we have experienced a case of lingual thyroid with mild dysphagia in a 48-year-old male. Now we report the case with literature review.

• 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 Korean Neurosurgical Society
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• v.38 no.3
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• pp.242-244
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• 2005

Encephaloceles are known as rare craniofacial developmental anomalies which are herniation of cranial contents through a skull defect. Sphenoidal meningoencephalocele represents an important cause of reversible visual loss. We report a rare case of pituitary adenoma accompanying sphenoidal meningoencephalocele with clival extension. Although the definitive diagnosis of cystic lesions in the sellar region before surgery is difficult, accurate diagnosis of these lesions is important to determine the type of treatment and predict prognostic outcome.

• Restorative Dentistry and Endodontics
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• v.43 no.4
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• pp.44.1-44.9
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• 2018

Fusion and gemination are developmental anomalies of teeth that may require endodontic treatment. Fusion may cause various clinical problems related to esthetics, tooth spacing, and other periodontal complications. Additional diagnostic tools are required for the diagnosis and the treatment planning of fused tooth. The present case report describes a case of unilateral fusion of a supernumerary root to an upper permanent central incisor with large periapical lesion in which a conservative approach was used without extraction of supernumerary tooth and obturated with mineral trioxide aggregate to reach a favorable outcome.

• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• 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.

• Journal of Korean Neurosurgical Society
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• v.61 no.4
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• pp.485-493
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• 2018

Objective : Cerebral varices (CVs) without an arteriovenous shunt, so called nonfistulous CVs, are very rare, and their etiology and natural course are not well understood. The aim of this study is to evaluate the clinical outcomes of nonfistulous CVs by the analysis of 39 cases. Methods : From 2000 to 2015, 22 patients with 39 nonfistulous CVs (${\geq}5mm$) were found by searching the medical and radiologic records of our institute. Clinical data and radiological data including numbers, sizes and locations of CVs and associated anomalies were retrospectively collected and analyzed. Previously reported cases in literature were reviewed as well. Results : The mean age of the patients was 21 years (range, 0-78 years). On average, $1.8{\pm}1.2CVs$ were found per patient. CVs were categorized as either fusiform or saccular depending on their shapes. Two patients had saccular type CVs, seventeen patients had fusiform types, and three patients had both fusiform and saccular CVs. Eight patients had associated compromise of the vein of Galen and the straight sinus. Four of those patients had sinus pericranii, as well. Five patients had CVs that were distal draining veins of large developmental venous anomalies. One patient had associated migration anomaly, and two patients had Sturge-Weber syndrome. Six patients with an isolated cerebral varix were observed. Of the 39 CVs in 22 patients, 20 lesions in 14 patients were followed up in outpatient clinics with imaging studies. The average follow-up duration was 6.6 years. During this period, no neurological events occurred, and all the lesions were managed conservatively. Conclusion : Nonfistulous CVs seemed to be asymptomatic in most cases and remained clinically silent. Hence, we suggest conservative management.