• Journal of Korean Academy of Oral Health
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• 제42권4호
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• pp.238-241
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• 2018

Williams syndrome is a rare congenital disorder with various physical abnormalities and characterized by facial, oral, and dental features. Individuals with Williams syndrome typically have eating disorders in the early childhood, which lead to prolonged night feeding. Prolonged night feeding is a risk factor for rampant dental caries. Williams syndrome is caused by the microdeletion of chromosome 7, resulting in elastin deficiency. Elastin is integral to cardiovascular health. Many patients with Williams syndrome have complex cardiovascular abnormalities that must be considered a part of dental management. Complications related to cardiovascular diseases may induce adverse effects such as dangerously elevated blood pressure. This may occur in patients during stressful dental treatment. In addition, characteristics of auditory hyperalgesia and anxiety disorders among patients with William syndrome, complicate receiving routine dental management. Therefore, dental treatment under sedation or general anesthesia may be preferable for patients with Williams syndrome; in particular, patients who are very uncooperative and/or needs extensive dental treatment. A thorough evaluation of each patient's physical condition is required before making decisions regarding dental treatment. Careful monitoring and preparation for emergencies are very important during and shortly after dental treatment under general anesthesia or sedation. Monitoring is critical until vital signs have stabilized and return to normal. A 28-month-old man diagnosed as having Williams syndrome, visited the Dental Hospital of ${\bigcirc}{\bigcirc}$ University for the management of rampant dental caries. We reported on the management of this patient who had peripheral pulmonic stenosis, and received dental treatment under general anesthesia. We also reviewed the characteristics of Williams syndrome and discussed considerations for dental treatment under general anesthesia.

• Journal of Korean Neurosurgical Society
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• 제50권3호
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• pp.256-259
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• 2011

We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective tissue abnormalities and cardiovascular disease. To our knowledge, our case report is the second case of Williams syndrome accompanying moyamoya disease. A 9-year-old boy was presented with right hemiparesis after second operation for coarctation of aorta. He was diagnosed as having Williams syndrome at the age of 1 year. Brain MRI showed left cerebral cortical infarction, and angiography showed severe stenosis of bilateral internal carotid arteries and moyamoya vessels. To reduce the risk of furthermore cerebral infarction, we performed indirect anastomosis successfully. Postoperatively, the patient recovered well, but at postoperative third day, without any unusual predictive abnormal findings the patient's pupils were suddenly dilated. Brain CT showed the global cerebral infarction. Despite of vigorous treatment, the patient was not recovered and fell in brain death one week later. We suggest that in this kind of labile patient with Williams syndrome accompanying moyamoya disease, postoperative sedation should be done with more thorough strict patient monitoring than usual moyamoya patients. Also, we should decide the revascularization surgery more cautiously than usual moyamoya disease. The possibility of unpredictable postoperative ischemic complication should be kept in mind.

• 대한장애인치과학회지
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• 제4권1호
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• pp.12-16
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• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• 대한소아치과학회지
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• 제34권4호
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• pp.666-671
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• 2007

윌리엄스 증후군은 심혈관계, 결합조직 및 중추신경계에 다발성 이상이 발생되는 선천성 장애이며 정신지체, 특이한 안모, 심혈관 질환이 동반되고 치아의 형태 이상, 치아 결손, 부정교합 등의 전형적인 구강내 소견을 나타낸다. 본 증례에서는 윌리엄스 증후군으로 진단된 환자에서 이미 보고된 구강내 소견 외에 영구치의 비정상적 맹출 경로로 인한 매복 소견이 나타났으며 이에 대한 치과적인 치료 과정을 보고하는 바이다.

• Journal of Chest Surgery
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• 제28권4호
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• pp.391-394
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• 1995

We expericenced one case of surgical treatment of congenital supravalvular aortic stenosis associated with Willjams` syndrome using Dory procedure. A 22 years-old male patient was admitted to the cardiology department due to dyspnea,easy fatigue,dizziness. On physical examination,systolic murmur was audibled at fight second parasternal intercostal space and his general appearance was elfin face and mental retardation was noted. Cardiac catheterization was revealed as a supravalvular aortic stenosis and pressure gradient was 45mmHg between the left ventricle and the aorta. Successful surgical treatment was accomplished with Inverted Y procedu~:e using Dacron patch[Doty procedure . Postoperative course was uneventful and he was discharged in good condition.

• Journal of Chest Surgery
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• 제49권2호
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• pp.115-118
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• 2016

Williams syndrome (WS) is a developmental disorder characterized by vascular abnormalities such as thickening of the vascular media layer in medium- and large-sized arteries. Supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis (PPAS) are common vascular abnormalities in WS. The natural course of SVAS and PPAS is variable, and the timing of surgery or intervention is determined according to the progression of vascular stenosis. In our patient, SVAS and PPAS showed rapid concurrent progression within two weeks after birth. We report the early manifestation of SVAS and PPAS in the neonatal period and describe the surgical treatment for stenosis relief.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제48권3호
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• pp.178-181
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• 2022

Williams-Beuren syndrome (WS) is a rare genetic disorder that results from microdeletion at chromosome 7, which harbors the elastin gene. Clinical findings include arteriopathy, aortic stenosis, hypertension, and laxities and contractures in different joints throughout the body. While many components of the temporomandibular joint (TMJ) normally contain elastin, there are few reports on TMJ manifestations of WS. This study reports a TMJ ankylosis case in a WS patient and shares insight on a possible link between development of TMJ ankylosis and elastin deficiency in WS patients. A WS patient presented with bilateral TMJ ankylosis and was successfully treated with TMJ gap arthroplasty. Hypermobility of TMJ and lack of elastin in retrodiscal tissue can induce anterior disc displacement without reduction. Due to lack of elastin, which has a significant role in the compensatory and reparatory mechanism of TMJ, WS patients might be prone to TMJ ankylosis.

• 대한장애인치과학회지
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• 제7권1호
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• pp.21-24
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• 2011

11세 여환이 저작시 불편감을 주소로 내원하여 임상 구강 검사 결과 하악 우측 구치부의 scissor bite이 관찰되었다. 내원 당시 환아는 치과 치료에 대한 두려움과 거부감을 나 타냈고 이에 1년 동안 정기 검진을 하여 환자와의 신뢰관계를 형성 후 교정치료가 가능하였다. Williams Syndrome 환자의 경우 사교적이며 친밀한 성격임에도 치과종사자나 치과 치료에 대한 두려움을 가질 수 있어 치료를 시작하기 전 환자와 치과 종사자간의 관계 형성을 통한 신뢰를 획득함으로 더 나은 질의 치료를 시행할 수 있을 것이다.

• Journal of Chest Surgery
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• 제23권6호
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• pp.1251-1255
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• 1990

B] familial: normal faces and intelligence; C] nonfamilial syndrome with abnormal facial appearance and mental retardation. Recently, we experienced a boy with type C characteristics of this syndrome and surgical correction which was consisted of a vertical incision across narrowed segment of the aorta, with the insertion of a prosthetic, Goretex patch, was performed successfully.

• Journal of Chest Surgery
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• 제33권9호
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• pp.748-751
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• 2000

The diffuse form of supravalvar aortic stenosis represents a surgical challenge when the ascending aorta, aortic arch, proximal descending thoracic aorta and arch arteries are involved. It can be treated by a variety of surgical approaches. We report a case of severe diffuse supravalvar aortic stenosis combined with an aortic valve anomaly and occlusion of the right coronary artery ostium in a 14-year-old boy with Williams syndrome. We enlarged the aortic root(Nick's procedure), ascending aorta, aortic arch, proximal descending thoracic aorta, and innominate artery with patches and replaced aortic valve with 19 mm St. Jude valve. Deep hypothermic circulatory arrest and retrograde cerebral perfusion were used during repair of the arch and arch artery.