• Journal of Trauma and Injury
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• 제26권1호
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• pp.30-33
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• 2013

A 55-year-old woman was seen in the emergency department with posterior neck pain and a headache after a traffic accident. Physical examination revealed tenderness on palpation over the posterior skull and a midline spinous process of the cervical spine without neurologic deficit. A plain radiograph of the cervical spine demonstrated the absence of the lateral portion of the posterior arch of the atlas and very lucent shadowing of the anterior midline of the atlas, suggesting a fracture of the anterior arch. On three-dimensional computed tomography (CT) of the cervical spine, anterior and posterior bony defects of the atlas were noted. Well-corticated defects were noted with sclerotic change and with no evidence of soft tissue swelling adjacent to the bony discontinuities, consistent with a congenital abnormality. With conservative therapy, the patient gradually showed a lessening of the midline tenderness. Careful investigation with radiography or CT is needed for these patients to avoid confusion with a fracture, because these patients seldom need surgical treatment.

• Journal of Preventive Medicine and Public Health
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• 제33권1호
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• pp.36-44
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• 2000

Objective : The heart diseases are known as a major cause of sudden death, as well as a cause of poor life-quality of school-age children. But there have been few mass screening of heart diseases in these children in Korea. This study was done to estimate the prevalence of heart diseases of these population. Methods : We screened all elementary students(grade 1) in 12 cities and 16 counties(Gun) in Kyonggi province from 1992 to 1955. The first screening was done by auscultation of doctors and simultaneously by checking using 'auto-interpreter of EKG-cardiac sound' (Fukuda Densi ECP 50A). We conducted luther examinations to whom classified as being abnormal condition in first screening, by using EKG, chest x-ray, doppler echocardiograpy(if needed). Results : The total number of examined students was 161,308(92% of the population), the male were 83,238 and female were 78,070. The congenital heart diseases(CHD) patients were 290(18 per 10,000) - male 155(18.6 per 10,000) and female 135(17.3 per 10,000). The most frequent disease was ventricula septal defect(VSD, 45.5%), Atrial septal defect(ASD, 14.8%), Tetralogy of Follot(TOF, 11.7%), and Patent Dutus Arteriosis(PDA, 7.6%) in order. In female, the order was VSD(48.1%), ASD(13.3%), TOF(11.1%), and PDA(10.4%). The total number of EKG abnormality were 433(62.7 per 10,000) among 69,056 screened children in 1995. The complete right bundle branch block(CRBBB) and paroxymal ventricular contraction(PVC) were frequent(26.6%, 26.3% in each), and incomplete right bunddle branch block(IRBBB, 14.6%), paroxymal atrial contraction(PAC, 6.7%), abnormal Q(5.8%), Wolf-Pakinson-White syndrom (5.5%) in order. In female, the most frequent abnormality was PVC(29.8%), and CRBBB(19.9%) in order. Conclusion : We could present the stable prevalence of the rare heart disease. The prevalence of congenital heart diseases was 18.0 per 10,000 and of EKG abnormality was 62.7 per 10,000 among school children.

• Journal of Chest Surgery
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• 제21권4호
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• pp.757-760
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• 1988

Double mitral valve orifice is an unusual congenital abnormality, and is rarely of clinical importance. That abnormality not produce hemodynamic deficits, but it has been associated with other congenital heart diseases, especially atrioventricular canal defects, and so it is surgically important condition. After the first report by M.S. Greenfield in 1876, there are only a few reported cases all over the world. We experienced two cases of double mitral valve orifice with atrioventricular canal defect. The small accessory mitral orifice was placed in anterior mitral leaflet as a hole type in both cases. The A-V canal defects are corrected with a one patch technique, but the accessory orifices are left unclosed because there were no mitral regurgitations through the orifice. On the 4th postoperative day, the patients have been performed echocardiography; both had no mitral regurgitation. Both of patients are now being follow-up and we find no specific problems. A small accessory mitral orifice may be left unclosed and rarely produce significant regurgitation, conclusively.

• 대한소아치과학회지
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• 제11권1호
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• pp.255-259
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• 1984

Ectodermal dysplasia is a rare hereditary abnormality of which the outstanding characteristics are hypodontia, hypohidrosis and hypotricosis. Patient afflicted with this malformation shows a typical face resembling that of congenital-syphilis. Dental abnormality (delayed eruption, oligodontia) becomes apparent in this child and causes the parents to bring him to the dentist. Prosthetic appliances are usually indicated and he must be adjusted or be remade as the child matures.

• Clinical and Experimental Pediatrics
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• 제62권2호
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• pp.68-74
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• 2019

Purpose: To investigate the prevalence of occult spinal dysraphism (OSD) and subsequent neurosurgery in pediatric patients with isolated or combined dorsal midline cutaneous stigmata with or without other congenital malformations. Methods: We carried out a retrospective review of patients who underwent sonography or magnetic resonance imaging (MRI) for OSD because of suspicion of dorsal midline cutaneous stigmata (presumed to be a marker for OSD) between January 2012 and June 2017. Information about patient characteristics, physical examination findings, spinal ultrasound and MRI results, neurosurgical notes, and accompanying congenital anomalies was collected. Results: Totally 250 patients (249 ultrasound and one MRI screening) were enrolled for analysis. Eleven patients underwent secondary MRI examinations. The prevalence of OSD confirmed by an MRI was 2.4% (6 patients including one MRI screening). Five patients (2%) had tethered cord and underwent prophylactic neurosurgery, 3 of whom had a sacrococcygeal dimple and a fibrofatty mass. Prevalence of tethered cord increased as markers associated with a sacrococcygeal dimple increased (0.5% of the isolated marker group, 8.1% of the 2-marker group, and 50% of the 3-marker group). Incidence of OSD with surgical detethering in 17 other congenital anomaly patients was 11.8%, which was higher than the 1.3% in 233 patients without other congenital anomalies. Conclusion: Our results suggest that the presence of dorsal midline cutaneous stigmata, particularly fibrofatty masses, along with a sacrococcygeal dimple is associated with OSD or cord tethering requiring surgery. OSD should be suspected in patients with concurrent occurrence of other congenital anomalies.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.53-57
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• 2022

다양한 아미노산 및 지질 대사 질환에서 피부와 모발의 변화가 관찰된다. 탈모증이 관찰되는 경우 장병성 선단피부염(아연 대사 장애), 비오티니다아제 결핍증 (비타민 B), 다발성 카르복실라제 결핍증, acrodermatitis acidemica 등 아미노산 및 비타민 대사 결함을 의심해볼 수 있다. 또한 부서지기 쉬운 모발이 관찰되는 경우 아르기니노숙신산뇨증 또는 시트룰린혈증 및 점액다당증을 의심해볼 수 있다. 건조하고 두꺼워진 인설을 가진 피부 또는 비늘증은 중성지질 축적 질환, 지방산 대사 장애, 콜레스테롤 합성 및 대사 장애와 관련하여 나타날 수 있다. 수포성 병변은 장병성 선단피부염, 비오티니다아제 결핍증, 홀로카르복실라제 합성효소 결핍증, acrodermatitis acidemica 등에서 나타날 수 있다.

• Journal of Chest Surgery
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• 제32권6호
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• pp.584-587
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• 1999

DiGeorge증후군은 드문 선천성 기형으로 3번째와 4번째 인후낭의 발생과정 이상에 의한 흉선과 부갑상선의 형성부전과 관련이 있다. 이 증후군은 흔히 선천성 심장기형과 안면기형을 동반한다. 저자들은 DiGeorge증후군을 동반한 선천성 심장기형을 1례 수\ulcorner 치험하였다. 환아는 생후 1개월된 남아로 몸무게는 3.5kg이었다. 동반된 선천성 심장기형은 심실중격결손증, 심방중격결손증, 대동맥축착증 및 동맥관 개존증이었다. 수술은 좌측방 개흉 및 흉골 정중절개를 통하여 일차에 거쳐 시행하였고 환아는 수술 후 별다른 문제없이 회복하였다. 현재 6개월 째 외래 추적관찰 중에 있으며 양호한 상태로 성장하고 있다.

• Journal of Chest Surgery
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• 제13권3호
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• pp.292-297
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• 1980

The congenital cystic adenomatoid malformation of the lung consists of an enlarged, meaty, multicystic lobe with smooth-walled cysts of varying sizes, which can communicate with major bronchi through malformed air passages that usually lacks cartilage. This abnormality is usually symptomatic in infancy with signs of respiratory distress such as tachypnea, substernal retraction and cyanosis. Prompt surgical resection is choice of treatment in life-threatening respiratory distress patients. We recently experienced a case of congenital cystic adenomatoid malformation of the lung in a patient with situs inversus totalis. The patient was 40 days old female who showed severe respiratory difficulty. Emergency left middle lobectomy was undergone successfully. Her postoperative course was uneventful. She was discharged from hospital on the postoperative eighth day in good condition.

• 한국임상수의학회지
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• 제20권3호
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• pp.423-426
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• 2003

Congenital anomalies occur at low levels in Korean antive cattle. PCR and Serum neutrlizing test against BVD, Akabane virus, Ibaraki virus, Kasba virus were examined. The results were all negative. Gross anatomical analysis was carried aout. Congenital abnormal newborn calf had 2 atropic left hindlimbs, which was nor moved autonomosly. The length of 2 atropic hindlimbs was 72 em and 48cm respectively. Both of them were curved severely at joints. Affected limbs were developed in connective tissue but lack of muscular tissue. In the abdominal region right kidney was normal. But there were two left kidneys which was half size compared with normal kidney. One of them had polycysts. In skeletal region, affected left limb is defective of head of femur and tibia.

• Journal of Korean Neurosurgical Society
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• 제64권3호
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• pp.340-345
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• 2021

Humans do not have tails; however, a congenital anomaly named "human tail" has been recognized since old times. In contrast with its impactful name, the anomaly itself is not fatal, and thus it has not been considered as a clinically serious symptom. However, many case reports suggested that retention of "the tail" is closely associated with spinal cord malformation and should be treated with care by neurosurgeons. Therefore, this review summarizes our knowledge regarding the anatomy, function, and development of the tail as a general structure in mammals. Learning the basic knowledge regarding tail anatomy and development would help clinicians to understand the "human tail" more concisely and to select more appropriate examinations or treatments in relation to this congenital anomaly.