• Title/Summary/Keyword: Williams' syndrome

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Considerations for dental treatment of Williams syndrome patients (윌리엄스 신드롬 환자의 치과치료를 위한 고려사항)

  • Shin, Jisun;Lee, Joonhaeng
    • Journal of Korean Academy of Oral Health
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    • v.42 no.4
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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.

Unpredictable Postoperative Global Cerebral Infarction in the Patient of Williams Syndrome Accompanying Moyamoya Disease

  • Sim, Yang-Won;Lee, Mou-Seop;Kim, Young-Gyu;Kim, Dong-Ho
    • Journal of Korean Neurosurgical Society
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    • v.50 no.3
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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.

WILLIAMS SYNDROME : TWO CASES (Williams 증후군 환아의 치의학적 소견에 대한 증례 보고)

  • Kim, Ji-Hee;Choi, Byung-Jai;Choi, Hyung-Jun;Song, Je-Seon;Lee, Jee-Ho
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.4 no.1
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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.

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DENTAL MANAGEMENT OF A CHILD WITH WILLIAMS SYNDROME (윌리엄스 증후군 환아의 치과적 치험례)

  • Shun, Ye-Kyung
    • 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.

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Congenital Supravalvular Aortic Stenosis Associated with Williams'Syndrome -One Case Report- (Williams' syndrome을 동반한 선천성 대동맥 판상협착 -치험 1례-)

  • 박진석
    • Journal of Chest Surgery
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    • v.28 no.4
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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.

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Early Manifestation of Supravalvular Aortic and Pulmonary Artery Stenosis in a Patient with Williams Syndrome

  • Lee, Jong Uk;Jang, Woo Sung;Lee, Young Ok;Cho, Joon Yong
    • Journal of Chest Surgery
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    • v.49 no.2
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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.

Temporomandibular joint ankylosis in Williams syndrome patient: an insight on the function of elastin in temporomandibular joint disorder

  • Woo, Jaeman;Lee, Choi-Ryang;Choi, Jin-Young
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.48 no.3
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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.

SCISSOR BITE CORRECTION IN PATIENTS WITH WILLAMS SYNDROME: A CASE REPORT (Williams Syndrome 환자에서의 scissor bite correction: 증례보고)

  • Ji, Eun-Hye;Choi, Hyung-Jun;Kim, Seong-Oh;Son, Heung-Kyu;Lee, Jae-Ho
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.7 no.1
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    • pp.21-24
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    • 2011
  • Williams syndrome(WS) is a congenital disorder caused by a deletion of the Elastin gene and other contiguous genes at chromosome 7. Patients with WS are at a high risk of dental caries, and they also have a higher frequency of dental malocclusion compared to normal children. Malocclusion occurs in 85% of individuals with WS, which results from combined causes, such as tongue thrust, hypotonia, and connective tissue abnormality. An 11 year-old girl with WS presented scissor bite on the lower right second premolar and the first molar, and she complained of difficulty in chewing. Active lingual arch was used instead of removable appliance, considering the patient's cooperation ability. Unilateral posterior scissor bite was corrected in 7 months. Although patients with WS are sociable and friendly, dental treatment can be a fearful experience for them. Efforts to build rapport with the patients with WS resulted in improved relationship between the doctor and patient, and desired outcome of dental treatment was achieved with patient's improved cooperation.

Williams Syndrome: A case report (윌리암씨 증후군)

  • 김영삼
    • Journal of Chest Surgery
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    • v.23 no.6
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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.

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Diffuse Supravalvar Aortic Stenosis Associated with Congenital Anomaly of the Aortic Valve(Williams Syndrome) -1 case report- (선천성 대동맥 판막 이상과 무명동맥 협착이 동반된 미만성 대동맥 판막상부 협착증 치험 1례)

  • 김수철;전순호
    • Journal of Chest Surgery
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    • v.33 no.9
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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.

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