• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.4
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• pp.297-306
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• 2007

Distraction osteogenesis was pioneered by Ilizarov in the treatment of injured extremities. Its subsequent application to Oral and Maxillofacial Surgery has opened a new chapter in the treatment of facial deformity. Careful monitoring of the period of distraction and consolidation of the callus is important and has been well described. Complications, such as infection, haematoma and premature ossification, are difficult to diagnose and can compromise the outcome after the surgery. Too slow rate of distraction results in premature fusion of cortices and too rapid information of bone 'cyst' within the callus distraction. I experienced 2 patients of congenital unilateral mandibular hypoplasia, so called Hemifacial Microsomia. After distraction surgery, I evaluated callus formation of mandibular distraction with Ultrasound Sonography during distraction and consolidation period. Plain radiography, although it enables accurate measurement of the distraction gap, did not give sufficient detail to allow assessment of early stages of bone formation, But, ultrasound monitoring could enable continuous monitoring of the distraction gap without exposure to ionizing radiation and allow detection of fine detail, which may influence manipulation of the callus.

• Journal of Korean Neurosurgical Society
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• v.56 no.1
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• pp.61-65
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• 2014

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

• Journal of Chest Surgery
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• v.12 no.3
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• pp.215-224
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• 1979

Corrected transposition of great arteries associated with dextrocardia [I.D.D.] is a very rare congenital cardiac malformation in which the atria and ventricles are in discordant relation, as are the ventricles and great arteries, but the aorta is to the right of the pulmonary artery. A 13 year old male patient who complained cyanosis and dyspnea on exertion for 8 years, was diagnosed as congenitally corrected transposition of great arteries associated with dextrocardia [I.D.D.], large ventricular septal defect, patent foramen ovale and pulmonary stenosis. He was operated on Nov. 22 1978. The ventricular septal defect was closed with Teflon felt and the pulmonary hypoplasia was corrected with Rastelli operation successfully. On 34th postoperative days, complete heart block was occurred and permanent epicardial pacemaker was implanted with good result.

• Archives of Plastic Surgery
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• v.49 no.5
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• pp.642-647
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• 2022

Hemifacial microsomia (HFM) is a complex congenital condition with heterogeneous malformations of the facial skeleton that almost always involves mandibular hypoplasia. Here we introduce a unique case in which a patient with HFM had initially successful optimization of facial symmetry using a polyetheretherketone implant for mandibular augmentation. However, multiple factors associated with the intraoperative and postoperative course, including hardware failure and infection, led to diminished mechanical strength of the mandible, ultimately resulting in a mandibular fracture. In this unique case presentation of HFM, we discuss the various factors that contributed to mandibular weakness and increased susceptibility to fracture.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.101-104
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• 2021

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.

• Journal of Yeungnam Medical Science
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• v.40 no.4
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• pp.419-422
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• 2023

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.1
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• pp.70-76
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• 2000

Congenital biliary atresia with progressive sclerosis of the intra- and extra-hepatic duct system occurs in 1 : 10,000 live births, and has a poor prognosis with an expected survival of less than 5 years. Etiology of biliary atresia is unclear, however, it is believed a genetic or developmental cause. The clinical characteristics include pronounced jaundice, hepatosplenomegaly, pruritus, steatorrhea, xanthomas, growth retardation, portal hypertension, bleedings, ascites and respiratory infections. Oral manifestations have seldom been reported in patients with biliary atresia, but there may be enamel hypoplasia, delayed tooth eruption, and green teeth. Early diagnosis and surgical intervention have decreased morbidity. returned growth and development to normal and improved the prognosis for survival. Authors report the clinical and radiologic characteristics, proper managements about two cases with biliary atresia.

• Childhood Kidney Diseases
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• v.6 no.1
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• pp.92-96
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• 2002

Oligomeganephronia is rare congenital anomaly characterized by striking reduction of the number of nephrons, which are markedly hypertrophied in renal hypoplasia. Since the first description of oligomeganephronia in bilateral renal hypoplasia in 1962, dozens of cases were reported. Van Acker reported the first case of oligomeganephronia developed in the solitary kidney and 8 cases were searched in the literature. We report a case of oligomeganephronia in the solitary kidney in 13 years old boy, presented with isolated proteinuria as a first case in Korea. (J Korean Soc Pediatr Nephrol 2002 ; 6:92-6)

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.2
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• pp.251-255
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• 2005

Radiotherapy for head and neck tumors is a viable treatment modality. However, a wide range of potentially debilitating dental complications may be accompanied by this treatment. We report two cases of developmental disturbance of permanent tooth germs after radiotherapy. The one was that of a seven-year-old girl, who had congenitally missing teeth, and microdontia of permanent tooth germs. she had received radiotherapy for acute myelocytic leukemia at the age of 19 months. The other was that of a nine-year-old boy, in which congenitally missing teeth, microdontia, root hypoplasia, and enamel hypoplasia of permanent teeth were observed. He had undergone a course of radiotherapy for bilateral retinoblastoma at the age of 13 months.

• Advances in pediatric surgery
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• v.6 no.1
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• pp.1-9
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• 2000

Despite of advances in perinatal management and treatment modalities congenital diaphragmatic hernia(CDH) remains a frustrating problem. Although the sheep has proven to be a reliable experimental model for the production of intrauterine CDH, the rabbit may have some advantages. These include lower cost, smaller body size, year-round availability, high number of fetuses per pregnancy, and short gestational period. To evaluate the feasibility of the rabbit model of CDH, twenty-seven pregnant New Zealand rabbits were utilized. Hysterotomy and an operative procedure for creating a diaphragmatic defect on gestational day 24 or 25, in two fetuses of each pregnant rabbit were performed. In one fetus of one cornu of the uterus, the left fetal diaphragm was excised through an open thoracotomy(DH group). In another fetus in the other cornu, CDH was created and the trachea clipped(Surgiclip, USSC, Norwalk, Conn., USA) (TL group). Delivery was by Cesarean section on 30 days of gestation. Among twenty- seven pregnant rabbits, 12 in the DH group and eight in the TL group were born alive. The most common herniated organ was the left lobe of the liver. In thee DH group, the lungs were hypoplastic with decreased lung weight/body weight ratio, reduced numbers of alveoli, thicker media of the pulmonary arteries, and immature alveoli. In TL group, the alveoli were more mature and did not differ from the control animals. In conclusion, (1) pulmonary hypoplasia develops in the fetal rabbit diaphragmatic hernia model and (2) simultaneous tracheal ligation prevents pulmonary hypoplasia.