• Journal of the Korean Arthroscopy Society
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• v.1 no.1
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• pp.108-111
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• 1997

Congenital deficiency of the anterior cruciate ligament (ACL) is a rare disorder that has been reported in association with other knee dysplasia like as congenital knee dislocation. congenital short femur, congenital absence of menisci, congenital ring meniscus, and thrombocytopenia-absent radius syndrome. There has been no published explanation about the etiology of bilaeral ACL deficiencies without other abnomality. The patient of congenital ACL deficiency must be carefully inspected about combined anomaly. Those efforts may be helful in treatment or ACL deficient patients and evaluation of pathophysiology or ACL deficiency. However there has not been a ruptured congenital deficiency of the ACL without other dysplasia or the knee and other congenital skeletal abnomalities. We reported a case of symptomatic bilateral congenital deficiencies of the ACL which have not been associated with other skeletal abnormalities.

• Advances in pediatric surgery
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• v.5 no.2
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• pp.137-140
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• 1999

Congenital afibrinogenemia is a rare disorder characterized by a congenital lack of fibrinogen, a key component of the hemostatic system. Bleeding manifestations of congenital afibrinogenemia vary in severity from mild to catastrophic. This is a case report of splenic rupture occurred in an eight-year-old boy with congenital afibrinogenemia. Nonoperative treatment with cryoprecipitate and virally inactivated, purified fibrinogen concentrates successfully avoided splenectomy.

• Clinical and Experimental Pediatrics
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• v.54 no.12
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• pp.512-514
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• 2011

Congenital syphilis is one of the most well-known congenital infections, yet it remains a worldwide public health problem. Congenital syphilis can involve any organ system and present with various symptoms. However, early diagnosis of congenital syphilis is difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Here, we report a case of congenital syphilis with only a skin rash, which led to a delay in diagnosis. This case indicates that congenital syphilis should be considered throughout early childhood.

• Neonatal Medicine
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• v.28 no.3
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• pp.99-107
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• 2021

Purpose: Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age. Methods: Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies. Results: Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years. Conclusion: The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.

• Korean journal of dermatology
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• v.56 no.9
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• pp.556-560
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• 2018

Congenital hemangioma (CH) is a fully formed benign vascular tumor at the time of birth and do not proliferate in postnatal life. CH must be differentiated from infantile hemangioma. CH has three subtypes that are recognized based on their natural history: Rapidly involuting congenital hemangioma (RICH), non-involuting congenital hemangioma (NICH), and partially involuting congenital hemangioma (PICH). It is important to distinguish RICH from NICH because RICH spontaneously regresses but NICH does not. Herein, we report two patients diagnosed with RICH and NICH, respectively. We presented the clinical features as well as ultrasonographic and histologic findings to distinguish congenital from infantile hemangioma.

• Journal of Chest Surgery
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• v.49 no.4
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• pp.295-297
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• 2016

Aorto-ventricular tunnel is a rare congenital malformation, and aorto-right ventricular tunnel (ARVT) is an even less common entity. Here, we report the case of a 3-month-old female who underwent successful surgical closure of ARVT. The origin of the right coronary artery was proximal to the ostium of the tunnel.

• Journal of Chest Surgery
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• v.22 no.3
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• pp.514-517
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• 1989

Congenital esophageal stenosis is a rare disease in childhood. By virtue of its complex embryological development, the esophagus is the site of many congenital abnormalities. Congenital Esophageal stenosis is one tenth as rare as tracheoesophageal fistula with esophageal atresia and is very rare in the cervical esophagus, which mostly occurred below mid-esophagus. Congenital esophageal web may be caused by the resorption failure of the epithelium following the vacuolization stage in embryonic development in the esophagus. Recently, we experienced 1 cases of congenital esophageal web, as the symptoms of life-long dysphagia. According to her history of dysphagia, radiologic and clinical findings, her esophageal stenosis was considered as congenital. For dilatation and relief of dysphagia, she underwent the Heineke-Mikulicz type of esophagoplasty. The results of surgical treatment were relatively good without any clinical events. So we reported it with its literature review.

• Journal of Chest Surgery
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• v.14 no.1
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• pp.87-90
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• 1981

Genetic and environmental factors are the two areas which have received attention in the etiology of congenital cardiac malformation. Genetic factor in many types of congenital heart disease have not been clearly delineated. Congenital heart diseases are a heterogenous category of developmental anomalies, representing in most cases the multifactorial inheritance of threshold characters, the expression of which is the product of a genetic - environmental interaction. Recently we experienced three pairs of congenital heart disease in siblings including ventricular septal defects in twin.

• Journal of Chest Surgery
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• v.24 no.8
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• pp.819-823
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• 1991

The congenital cystic adenomatoid malformation of the lung is a rare disease, and is one of the most common congenital lung diseases which require prompt surgical intervention. The prognosis depends on its tissue type, prompt diagnosis and surgical intervention. The lesion consists of enlarged, variable sized multiple cyst with overgrowth of terminal bronchioles, like hamartoma. This disease can be associated with other vascular anomalies or other congenital defect especially in type II lesion We recently experienced one case of congenital cystic adenomatoid malformation The patient was 2 months old infant who showed respiratory distress without associated anomaly. After right upper lobe lobectomy, the patient was recovered uneventfully.

• Journal of Chest Surgery
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• v.28 no.2
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• pp.180-182
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• 1995

Congenital coronary arteriovenous fistulas are uncommon, but well documented lesions. There are two types of congenital coronary arteriovenous fistulas according to drainage sites, the cardiac chambers or the pulmonary trunk. Especially congenital coronary arteriovenous fistula originating from the left coronary artery is rare. Two cases will be described of the two patients in whom fistulas communicating between the right coronary artery and the right atrium, left coronary artery and the main pulmonary artery each other.