• Advances in pediatric surgery
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• v.17 no.1
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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.

• Clinical and Experimental Pediatrics
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• v.53 no.12
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• pp.1018-1021
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• 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

• Advances in pediatric surgery
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• v.16 no.1
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• pp.37-42
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• 2010

Tracheal injury is a rare complication of endo-tracheal intubation. However in neonates, the rates of morbidity and mortality are high. Recommendations for treatment are based on the several reports of this injury and are individualized. Conservative management can be effective in some cases. We describe the case of a neonate who presented with subcutaneous emphysema after intubation in a neonatal intensive care unit. This patient suffered full VACTERL syndrome and had 1.7 mm diameter subglottic stenosis. Conservative management resulted in no further increase in subcutaneous emphysema and after 10 days the patient was stable.

• Clinical and Experimental Pediatrics
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• v.53 no.6
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• pp.705-710
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• 2010

Purpose: To determine the clinical manifestations and outcomes of patients with tracheoesophageal fistula (TEF) and esophageal atresia (EA) born at a single neonatal intensive care unit. Methods: A retrospective analysis was conducted for 97 patients with confirmed TEF and EA who were admitted to the neonatal intensive care unit between 1990 and 2007. Results: The rate of prenatal diagnosis was 12%. The average gestational age and birth weight were $37^{+2}$ weeks and $2.5{\pm}0.7kg$, respectively. Thirty-one infants were born prematurely (32%). Type C was the most common. The mean gap between the proximal and distal esophagus was 2 cm. Esophago-esophagostomy was performed in 72 patients at a mean age of 4 days after birth; gastrostomy or duodenostomy were performed in 8 patients. Forty patients exhibited vertebral, anorectal, cardiac, tracheoesophageal, renal, limb (VACTERL) association with at least 2 combined anomalies, and cardiac anomaly was the most common. The most common post-operative complications were esophageal stricture followed by gastroesophageal reflux. Balloon dilatation was performed for 1.3 times in 26 patients at a mean age of 3 months. The mortality and morbidity rates were 24% and 67%, respectively, and the most common cause of death was sepsis. The weight of approximately 40% patients was below the 10th percentile at 2 years of age. Conclusion: Mortality and morbidity rates of patients with TEF and EA are high as compared to those of infants with other neonatal surgical diseases. Further efforts must be taken to reduce mortality and morbidity and improve growth retardation.

• Advances in pediatric surgery
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• v.14 no.1
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• pp.12-20
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• 2008

From 1979 to 2006, fifty eight patients with esophageal atresia were treated by one pediatric surgeon at Hanyang University Hospital. We analyzed the clinical findings and outcome of these 58 patients. There were 30 males and 28 females. Their mean birth weight was $2,960{\pm}400g$ (1,170~4,020 g). The most common type of anomaly was Gross type C (49 patients; 84.5 %). There was no type B. Fifty-two patients underwent definitive surgery. Postoperative complications were as follows: anastomotic leakage in 17 patients (32.7 %), anastomotic site stricture in 15 (28.8 %), gastroesophageal reflux in 10 (19.2 %) and recurrent TEF in 1 (1.9 %). A total of 152 associated anomalies were detected from 48 patients (82.2 %). The cardiovascular system was the most commonly affected (30 patients with 46 anomalies). The VACTERL association was present in 14 patients (24.1 %). Operative mortality was 17.3 % including self-discharge patients after operation.

• Advances in pediatric surgery
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• v.12 no.2
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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.

• Advances in pediatric surgery
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• v.9 no.1
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• pp.6-11
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• 2003

This study reviews 14 years' experience treating esophageal atresia with special emphasis on the clinical profile and outcome. From May 1989 to February 2003, 65 cases of esophageal atresia (EA) were treated at Asan Medical Center. Boys outnumbered girls 2.4 to 1. Prematutity and low birth weight were 27.7% and 38.5%. Esophageal atresia with distal tracheoesophageal fistula (TEF) was the most common type (87.7%), followed by pure EA and H type fistula. Forty-six patients (70.8%) had one or more associated anomalies, cardiac malformations were the most common. Duodenal atresia was found in 7 cases. There were 6 patients (9.2 %) with VATER cluster. VACTERL cluster was present in 18 patients (27.7%), one of who fulfilled the complete syndrome. Waterston group A, B and C made up 21.5%, 40.0% and 38.5% of the total group. Surgical treatment was attempted in 63 patients and deferred in 2 who had severe associated malformations. For EA with distal TEF, primary esophago esophagostomy was carried out in 51 cases, and division of TEF and gastrostomy in 4 cases and no operation in 2 cases. For pure EA, colonic graft was done in 2 after gastrostomy and esophagostomy, and esophago esophagostomy was performed in 2 after gastrostomy. Two patients with pure EA are waiting for the second operation after gastrostomy. Division of TEF was carried out in 2 cases with H type TEF. The overall survival rate was 76.9%, and survival by Waterston classification was 100% in group A, 80.8% in B and 60.0% in C. Thorough workup for associated anomalies, interdepartmental approach and more careful surgical decision and technique are required to improve the outcome of EA.