• Journal of the Korea Academia-Industrial cooperation Society
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• v.12 no.9
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• pp.3834-3842
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• 2011

The purpose of this study is to analyze the kinematic characteristics of children with Down syndrome got congenitally joint laxity and muscle hypotonic. The subjects are boys with Down syndrome and don't have the other disabilities. We got three dimensional position data and then calculated spatiotemporal and kinematic variables during walking on treadmill used increasingly for gait analysis and training. In result, in order to overcome their gait instability due to their musculoskeletal characteristics they walked with hip, knee and ankle joints more flexed than the typical gait pattern, and on the propulsion phase they extend the lower limb joints less than the typical, result in propel the body less than. The reason is that the more is the propulsion by extending the joints, the greater is the reaction force from the ground on heel contact. This result is expected to be used to develop the training program for intensification of musculoskeletal system aim to improve the other musculoskeletal disabilities as well as Down syndrome.

• The Journal of the Korean dental association
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• v.26 no.12 s.235
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• pp.1087-1090
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• 1988

악안면 형성과정의 이상으로 인한 구조적 결함상태로 정의되어지는 악안면 기형(maxill-ofacial ogtal malformation)은 사고나 기능적(funct-ional) 장애로 인해 후천적으로 생길 수도 있으나 유전적 원인 등으로 인한 선천적 경우도 많다. 특히 후자의 경우에는 여러 증후군과 결합되어 나타나는 수가 많다. 치과의사는 치아이상이나 기능적 이상으로 인한 기형의 치료 및 예방을 담당할 책임이 있으며, 더욱이 새로운 진료실에서 직접 대면할 수 있는 최초의 의사가 될 수 있다는 점에서 특별한 기형외에도 전반적인 증후군에 대한 지식을 갖는 것이 중요하다. 악안면 기형환자에게는 전반적 검사가 필수적이며 방사선 분석, 치아모형 분석 등 다양한 분석이 필요하나, 여기에서는 주로 병력 청취나 시진을 통한 검사에 중점을 두어 서술하고자 한다.

• Journal of Chest Surgery
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• v.34 no.7
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• pp.552-555
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• 2001

Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovate. The second 28-year-old male patient had valvular and subvalvular Pulmonary stenosis with typical Noonan\`s face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovate was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.

• 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.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.8.1-8
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• 1978

Waardenburgs syndrome is estimated to account for 1 to 7% of all congenital deafness. The primary features of the syndrome include lateral displacement of the medial canthi and lacrimal punctae, a flat nasal root, white forelock, unilateral or bilateral congenital deafness, some degree of heterochromia of the iris, and hyperplasia of the eyebrow. This syndrome was described at first by Waardenburg in 1951, and since that time there have been reports of the same syndrome in both the English (Partington, 1959) and American (Di George) literature. The authors have experienced 3 cases of Waardenburgs syndrom, and report these cases with literature review.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.166-170
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• 2001

Rubinstein-Tabyi syndrome(RTS) is a congenital multisystem dysmorphic syndrome with many non-specific features, making diagnosis occasionally difficult. The major features of this syndrome include mental retardation, characteristic facial appearance, short stature, microcephaly, and broad thumbs and halluces. This syndrome was first described by Rubinstein and Tabyi in 1963, and many studies have been continued about this syndrome, but specific pathogenesis of the Rubinstein-Tabyi syndrome phenotype is still not clear. High arched palate, micrognathia and multiple caries etc have been reported in Rubinstein-Tabyi syndrome. In this report, a 6-year and 5-month-old boy visited at our department due to multiple dental caries, who showed broad thumbs, mental and physical development retardation, and characteristic facial appearance including both ptosis and ear deformity. This patient was diagnosed as a Rubinstein-Tabyi syndrome, and treated the multiple dental caries under general anesthesia. This study was aimed to observe the relationship between medical and dental characteristics.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.2
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• pp.268-273
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• 2004

Short bowel syndrome in children, most commonly results after extensive bowel resection for necrosis of the bowel. It may be caused by several intestinal catastrophes such as volvulus, hernia and necrotizing enterocolitis. The risk factors on short bowel syndrome are the remaining length of the bowel, the age of onset, the absence of the ileo-cecal valve and the time after resection. Macro and micronutritional deficiencies are the most significant complications of short bowel syndrome. We report a 5 year-old girl, who had a strangulated congenital transmesenteric hernia leading to short bowel syndrome accompanied by iron deficiency anemia.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.94-99
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• 2008

Congenital malformation is observed in about 2-5% of newborns and is a leading cause of infant mortality. The prognosis of malformation is dictated mainly by proper treatment followed by correct diagnosis at an early age. In practice, etiological consideration and classification of a malformation is critical for diagnosis. Malformations can be classified as belonged to minor or major anomaly. It is clinically important to clarify the pathogenesis of the anomalies among malformation, deformation, disruption, and dysruption. Genetic counseling aids this process by helping patients or family members understand and the nature of the malformation and risk assessment.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.1
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• pp.115-122
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• 2018

Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. It is a congenital genetic disorder with a prevalence of between 1/1,000 and 1/2,500 in both genders. An 11-year-old boy with Noonan syndrome visited the hospital with an ectopically positioned tooth. A pulmonary stenosis was diagnosed and his growth and development were delayed. In many cases of this diseases there is obvious hemostasis, which he was not experiencing. His facial appearance showed characteristic features of Noonan syndrome. The patient showed a dental class II relationship, labioversion of the upper anterior teeth, and a shallow overbite. Radiographic examination revealed that the upper right canine was ectopically positioned, which led to root resorption of the upper right lateral incisor. A lateral cephalometric radiograph revealed a craniofacial pattern that was within normal limits. Surgical opening and button attachment on the impacted upper right canine were performed and traction was applied on the impacted tooth using a removable appliance. This patient was mildly affected by Noonan syndrome and showed some dental problems. However, few studies have reported the oral characteristics of Noonan syndrome despite its high incidence. Thus, this case report describes the oral features and management of Noonan syndrome.

• Journal of Chest Surgery
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• v.31 no.9
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• pp.915-918
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• 1998

The chest wall deformity associated with Poland's syndrome is a very rare anomaly which consists of congenital unilateral absence of the sternal head of the pectoralis major muscle and various abnormalities of the upper extremity. Other clinical features associated with Poland's syndrome include deficiency or absence of the breast and nipple, deficiency of subcutaneous fat and axillary hair, and abnormalities of costal cartilages and anterior ends of ribs. The origin remains uncertain, but is considered not to be hereditary. Poland's syndrome may pose a serious psychologic and cosmetic problem, early recognition and surgical correction may prove beneficial. A 37 year old patient with Poland's syndrome was encountered and underwent satisfactory surgical correction.