• Journal of Korean Neurosurgical Society
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• 제58권1호
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• pp.79-82
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• 2015

Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia.

• Journal of Korean Neurosurgical Society
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• 제49권4호
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• pp.226-228
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• 2011

We report a case of spontaneous right carotid-cavernous fistula (CCF) in a proximal segment of persistent primitive trigeminal artery (PPTA) and combined vascular anomalies such as left duplicated hypoplastic proximal posterior cerebral arteries and a variation of anterior choroidal artery supplying temporal and occipital lobe. A 45-year-old male presented with progressive right exophthalmos, diplopia, and ocular pain. With manual compression of the internal carotid artery, a cerebral angiography revealed a right CCF from a PPTA. Treatment involved the placement of detachable non-fibered and fibered coils, and use of a hyperglide balloon to protect against coil herniation into the internal carotid artery. A final angiograph revealed complete occlusion of PPTA resulted in no contrast filling of CCF.

• Journal of Chest Surgery
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• 제17권3호
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• pp.448-455
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• 1984

Coarctation of the Aorta is a congenital constriction of aorta of varying degree, usually located at or near the aortic ismuth with frequent associations of other cardiac anomalies. Various modes of surgical corrections, such as resection and end-to-end anastomosis, graft interposition, angioplasty using prosthetic patch or subclavian flap have been used according to the status of coarctation and age of the patient. We have experienced two cases of surgically treated coarctation of the aorta, one of which was preductal coarctation with hypoplastic aortic arch and ventricular septal defect in a 4 year old boy, and the other case was juxtaductal type with aortic regurgitation. Subclavian flap angioplasty with additional pulmonary artery banding procedure was done in the first case and wedge resection with end-to-end anastomosis and aortic valve replacement [St. Jude valve, 23mm] 20 days later of first operation in the other case. The first case developed massive tarry stool on 3rd POD, probably due to mesenteric arteritis with resultant bowl ecrosis, and expired the next day. Recovery was uneventful with the second case.

• Journal of Chest Surgery
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• 제28권8호
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• pp.784-787
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• 1995

A 3-year old female who underwent modified Fontan operation for the double outlet right ventricle with hypoplastic left ventricle at the age of 15 month was admitted with hemoptysis, which was developed 4 days prior to visit. Cardiac catheterization revealed that multiple collaterals from descending thoracic aorta supplied the right lung and drained to the right pulmonary artery. Chest magnetic resonance imaging [MRI showed that the right lung was consolidated by the secondary long-term pulmonary congestion. We decided to perform pneumonectomy because the consolidated right lung and the back-flow from the right pulmonary aretry would worsen the present hemodynamic state of patient. Post-operative course was uneventful, and she could be discharged with good general conditions.

• Journal of Chest Surgery
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• 제37권6호
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• pp.539-542
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• 2004

폐동맥 형태가 비정상적이거나 폐동맥 저항이 높은 경우뿐 아니라 주요 대동맥-폐동맥 측부혈관은 폰탄 수술의 위험을 높이는 인자로 알려져 있다. 저자들은 기능적 단심실과 더불어 양측 폐동맥의 발달이 매우 미약하고 양측 폐의 대부분을 주요 체-폐동맥 부행혈관에 의해 혈류가 공급되는 고위험 폰탄수술 환자에서, 단일초점화수술과 체폐동맥 단락술로 폐동맥 재건과 단계적 수술을 거쳐 성공적으로 폰탄수술에 이르렀기에 이를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Structural Engineering and Mechanics
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• 제15권3호
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• pp.315-329
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• 2003

As shear occurs along a soil-structure interface, a localized zone with a thickness of several grain diameters will develop in soil along the interface, forming an interfacial layer. In this paper, the behaviour of a soil-structure interface is studied numerically by modelling the plane shear of a granular layer bounded by rigid plates. The mechanical behaviour of the granular material is described with a micro-polar hypoplastic continuum model. Numerical results are presented to show the development of shear localization along the interface for shearing under conditions of constant normal pressure and constant volume, respectively. Evolution of the resistance on the surface of the bounding plate is considered with respect to the influences of grain rotation.

• Journal of Chest Surgery
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• 제10권1호
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• pp.90-97
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• 1977

This is a report of a. case in which a long narrow segment coarctation of the aorta was successfully corrected with Teflon graft. The patient was 30 year old man with hypertensive symptoms that occurred 7 years prior to operation. Blood pressure measured 230/110 mmHg in the arms and 110/80 mmHg in the legs. Pulses were strongly tensive in radial artery, but very weak in femoral artery and even absent in dorsal pedis artery. Final preoperative diagnosis was made by aortography which showed a long narrow segment between aortic arch and descending thoracic aorta and highly developed collateral circulations. A long hypoplastic narrow segment was located proximal to the ligament arteriosus, and diaphragmatic stenosis of the aorta was located just distal to the ligamentum arteriosus. After prosthetic correction of the coarctation of the aorta, blood pressure were measured 130/ 80 mmHg in the arms and 150/100 mmHg in the legs. Peripheral pulses were palpated normally, and the postoperative course was uneventful.

• Clinical and Experimental Pediatrics
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• 제55권3호
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• pp.107-110
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• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.109-112
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• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.