• Neonatal Medicine
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• 제28권3호
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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.

• Advances in pediatric surgery
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• 제17권1호
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• pp.81-87
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• 2011

This study was aimed to evaluate associated congenital anomalies in the patients with esophageal atresia with tracheoesophageal fistula (EA/TEF). Forty-two neonates with the diagnosis of EA/TEF treated over a 10 year period in a single institution were included in this study. The demography of EA/TEF was analyzed. Major associated anomalies including vertebral, anal, cardiac, renal, limb, neurologic and chromosome were reviewed and categorized. Males were slightly more dominant than females (1.47:1) and all patients had Gross type C EA/TEF. Only 19 % of the patients had solitary EA/TEF without associated anomalies. Cardiac anomalies were the most common associated congenital anomaly in patients with EA/TEF (73.8 %). But 47.6 % were cured spontaneously or did not affect patients' life. Atrial septal defect (ASD) was the most common cardiac anomaly followed by patent ductus arterious (PDA) and ventricular septal defect (VSD). Among gastrointestinal anomalies (23.8 %), anorectal malformations were the most frequent, 70 % Vertebral and limb abnormalities accounted for 11.9 % and urogenital malformations 9.5 % of the anomalies in patients with EA/TEF. VACTERL associated anomalies were 23.8 % and 1.8% had full VACTERL. Almost 12 % of EA/TEF had neurologic anomalies. Patients with EA/TEF require preoperative evaluation including neurologic evaluation to detect anomalies not related to VACTERL. Though associated cardiac anomaly occurred in 73.8 % of patients in our study, only 21.42 % needed surgical correction. The authors suggesrs further studies with large numbers of patients with EA/TEF.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권1호
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• pp.28-33
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• 2013

Purpose: Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia. Methods: Clinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted. Results: The incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems. Conclusion: This study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality.

• 대한두개안면성형외과학회지
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• 제19권4호
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• pp.243-247
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• 2018

Vascular anomalies are disorders of the endothelium and surrounding cells that can affect the vasculature and involve any anatomical structure. The most common problem associated with vascular anomalies is psychological distress related to disfigurement as well as functional defects, as many lesions affect the head and neck. This article provides an overview of the current clinical features that distinguish the major types of vascular anomalies that affect the head and neck.

• 대한치과교정학회지
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• 제50권6호
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• pp.383-390
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• 2020

Objective: To investigate the distribution, side involvement, phenotype, and associated anomalies of Korean patients with craniofacial clefts (CFC). Methods: The samples consisted of 38 CFC patients, who were treated at Seoul National University Dental Hospital during 1998-2018. The Tessier cleft type, sex, side involvement, phenotype, and associated anomalies were investigated using non-parametric statistical analysis. Results: The three most common types were #7 cleft, followed by #0 cleft and #14 cleft. There was no difference between the frequency of male and female. Patients with #0 cleft exhibited nasal deformity, bony defect, and missing teeth in the premaxilla, midline cleft lip, and eye problems. A patient with #3 cleft (unilateral type) exhibited bilateral cleft lip and alveolus. All patients with #4 cleft were the bilateral type, including a combination of #3 and #4 clefts, and had multiple missing teeth. A patient with #5 cleft (unilateral type) had a posterior openbite. In patients with #7 cleft, the unilateral type was more prevalent than the bilateral type (87.0% vs. 13.0%, p < 0.001). Sixteen patients showed hemifacial microsomia (HFM), Goldenhar syndrome, and unilateral cleft lip and palate (UCLP). There was a significant match in the side involvement of #7 cleft and HFM (87.5%, p < 0.01). Patients with #14 cleft had plagiocephaly, UCLP, or hyperterorbitism. A patient with #30 cleft exhibited tongue tie and missing tooth. Conclusions: Due to the diverse associated craniofacial anomalies in patients with CFC, a multidisciplinary approach involving a well-experienced cooperative team is mandatory for these patients.

• Neonatal Medicine
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• 제15권2호
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• pp.200-206
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• 2008

안면 기형, 삼각두, 뇌량 무형성, 감각 신경성 난청, 시각장애, 심기형, 심근병증, 폐동맥 고혈압, 배꼽 탈장과 생식기 기형이 있는 환아에게 동반된 9번 염색체 단완이질염색질 부위의 첨가를 발견하여 9번 염색체 p13 부위의 첨가와 연관된 다발성 기형의 발생을 보고하는 바이다.

• Journal of Chest Surgery
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• 제7권1호
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• pp.85-92
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• 1974

During the years 1959 to 1974, 99 patients with patent ductus arteriosus were admitted to National University Hospital. These includes 5 patients with additional cardiovascular and 5 patients with severe pulmonary hypertension. All were operated upon except three refused operation. In all instances, the diagnosis was made by history and physical, roentgenological and electrographic examinations. In addition, in 53 patients, special diagnostic procedures were carried out either for diagnosis or for evaluation of pulmonary hypertension and associated cardiovascular anomalies. Right cardiac catheterization was resorted to in 51 patients. In one of these patients catheterization was incorrectly interpreted [ventricular septal defect]. Retrograde aortogram was performed in two patients. In both cases the ductus itself was visualized on the x-ray film. An additional vascular anomaly, namely the persistent left superior vena cava, was confirmed by retrograde angiogram in one of them. In 5 cases the pulmonary arterial pressure was elevated well over 80 mmHg. In these instances,the operative mortality was 80% [4 out of 5 patients]. The management of patent ductus arteriosus when associated with severe pulmonary hypertension. and/or other cardiac anomalies is controversial. Opinions differ as to how to close the ductus and to repair the cardiac anomalies as well as to whether a one-staged or two-staged procedure should be resorted to. The author is of the that each case must be evaluated individually before any specific surgical treatment is ou.tlined. The literature on the subject is reviewed in this paper.

• Journal of Chest Surgery
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• 제27권4호
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• pp.259-265
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• 1994

Cor triatriatum is a relatively rare cardiac anomaly, whose major feature is a fenestrated membrane separating an upper common pulmonary venous chamber from a lower true left atrial cavity. Interatrial communications may be present between the right atrium and the common pulmonary venous chamber or the true left atrium. From April 1981 to April 1992, 24 patients with cor triatriatum were treated at Seoul National University Hospital. Ages ranged from 1 month to 24 years with mean of 7.4 years. Twenty patients had interatrial communications through a patent foramen ovale, primum or secundum defect of the atrial septum. Four had no interatrial communications. Fourteen patients had associated anomalies; partial anomalous pulmonary venous connection in 3, total anomalous pulmonary venous connection in 2, persistent left superior vena cava in 3, and other anomalies in 6 patients. Surgical corrections were performed through right atriotomy in 18 patients, left atriotomy in 4, and both atriotomy in 2. Three patients [12.5%] died early after operation; two of them were associated with single ventricle. Six out of 21 survivors [28.6%] experienced complications; recurrent pneumonia, pulmonary embolism, ischemic encephalopathy, diaphragmatic palsy and tachyarrhythmias. At the time of follow up, all survivors, except one, were in functional class I. Surgical correction of cor triatriatum restored normal hemodynamic status with relatively low operative mortality, especially in patients not complicated with severe anomalies. This report summarizes the clinical diagnosis, associated anomalies, interatrial communications, surgical approach and late result of 24 patients underwent surgical corrections in our hospital.

• Advances in pediatric surgery
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• 제12권2호
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• pp.175-182
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• 2006

VATER association is defined as a combination of 3 or more anomalies- vertebra (V), imperforate anus (A), esophageal atresia with or without tracheoesophageal fistula (TE), renal and radial anomaly(R). We reviewed our experiences in one center to determine etiology, prevalence, clinical manifestation, other associated anomaly and prognosis. Two hundred and twenty-three cases that underwent operations for imperforate anus or esophageal atresia were analyzed retrospectively through medical records at Department of Pediatric Surgery, Asan Medical Center from June, 1989 to July, 2005. The total number of neonates who had been admitted during period of study were 46,773 and VATER association was 9 (0.019 %, 1.92 persons per 10,000 neonates). Median gestational age and birth weight were $37^{+4}wk$ ($35^{+1}$ - $41^{+4}$) and 2,594 g (1,671-3,660), respectively and median age of mother was 32 years (23-38). There was no family history. Three patients were twins but their counterparts had no anomalies. Patients who have 3 anomalies were 6, 4 anomalies in two and 5 anomalies in one patient. Vertebra anomalies were detected in 7(77.7 %), imperforate anus in 8(88.9 %), esophageal atresia in 5 patients (55.6 %), renal anomaly in 6(66.7 %), and radial anomaly in 5(55.6 %), respectively. Four patients are alive, 2 patients were lost during follow up period. Three patients died due to neonatal sepsis, respiratory dysfunction and cardiac failure. VATER association did not appear to be a definite risk factor, but merely a randomized combination of 5 anomalies. The prognosis was dependent on the other associated anomalies, appropriateness of management and operation. Careful follow-up and aggressive treatmentare required for improving survival and quality of life.

• Journal of Korean Neurosurgical Society
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• 제46권6호
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• pp.522-527
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• 2009

Objective : Atlantal arch defects are rare. Few cadaveric and imaging studies have been reported on the variations of such anomalies. Our goal in this study was to examine the incidence and review the clinical implications of this anomaly. Methods : A retrospective review of 1,153 neck or cervical spine computed tomography (CT) scans was performed to identify patients with atlantal arch defects. Neck CT scans were performed in 650 patients and cervical spine CT scans were performed in 503 patients. Posterior arch defects of the atlas were grouped in accordance with the classification of Currarino et al. In patients exhibiting this anomaly, special attention was given to defining associated anomalies and neurological findings. Results : Atlantal arch defects were found in 11 (11/1153, 0.95%) of the 1,153 patients. The type A posterior arch defect was found in nine patients and the type B posterior arch defect was found in two patients. No type C, D, or E defects were observed. One patient with a type A posterior arch defect had an anterior atlantal-arch midline cleft (1/1153, 0.087%). Associated cervical spine anomalies observed included one $C_{6-7}$ fusion and two atlantal assimilations. None of the reviewed patients had neurological deficits because of atlantal arch anomalies. Conclusion : Most congenital anomalies of the atlantal arch are found incidentally during investigation of neck mass, neck pain, radiculopathy, and after trauma.