• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.2
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• pp.75-79
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• 2007

Background: Down's syndrome, or trisomy 21, is the commonest congenital chromosome anomaly. With improvement in medical care, these patients increasingly reach adulthood in spite of their physical maldevelopment and mental retardation. And, the number of those who required general anesthesia for dental treatment is increasing. Methods: We reviewed the 26 cases of 22 patients with Down's syndrome who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul National University Dental Hospital. Results: The mean age was 22 years. They all had severe mental retardation and some had congenital heart anomaly, epilepsy, hypothyroidism, acute leukemia, autism, cleft palate, and chronic renal failure. For anesthesia induction, 4 cases was needed physical restriction, but others showed good or moderate cooperation. Drugs used for anesthesia induction was thiopental (17 cases) and sevoflurane (9 cases). All patients received nasotracheal intubation and 3 cases needed difficult airway management. Mean total anesthetic time was $166{\pm}60$ min and staying time at PACU was $92{\pm}48$ min. There was no death or long term hospitalization because of severe complications. Conclusion: If general anesthesia is needed, pertinent diagnostic tests and workup about anomaly, and appropriate anesthetic planning are essential for safety.

• Journal of Chest Surgery
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• v.30 no.1
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• pp.108-111
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• 1997

Congenital unilateral agenesis of pulmonary artery is a rare anomaly and it usually occurs in association with other cardiac anomaly such as tetralogy of Fallot. Since most patients affected by this defect without associated congenital cardiac anomaly or pulmonary Infection are asymptomatic, the clinical diagnosis of this anomal is first recognized by a characteristic pattern in chest roentgenogram taken as a routine checking; the findings on chest film consists of cardiac and mediastinal displacement, absence of the pulmonary arterial shadow, smaller hemithorax, and elevationof the hemidiaphragm, all on the affected side. We experienced rlght pulmonary artery agenesis in a 48 year-old male, who complained of massive hemoptysis, and it was diagnosed by digital subtraction pulmonary arteriogram and perfusin scan, and treated by right middle and lower lobe bi-lobectomy, and we report this case with the review of relevant literatures.

• Archives of Plastic Surgery
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• v.39 no.4
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• pp.329-332
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• 2012

Background Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been studied in some articles, but no conclusion has been established. Also, no relevant report has been published in Korea. This study was conducted to elucidate the genetic inheritance of ankyloglossia via pedigree analysis. Methods In this study, 149 patients with no other congenital anomaly who underwent frenuloplasty between March 2001 and March 2010 were studied. Pedigrees were made via pre- or post-operative history taking, and patients with uncertain histories were excluded. In the patient group that showed a hereditary nature, the male-to-female ratio, inheritance rate, and pattern of inheritance were investigated. Results One hundred (67.11%) of the patients were male and 49 (32.89%) were female (male-female ratio=2.04:1). Ninety-one (61.07%) patients reported no other relative with ankyloglossia, and 58 (38.93%) patients had a relative with this disease. The inheritance rate was 20.69% in the 58 cases with a hereditary nature. In the group with no family history of ankyloglossia, the male-female ratio was 3.79:1, which significantly differed from that of the group with a family history of ankyloglossia. X-chromosome mediated inheritance and variation in the gene expression was revealed in the pedigree drawn for the groups with hereditary ankyloglossia. Conclusions Ankyloglossia has a significant hereditary nature. Our data suggest X-linked inheritance. This study with 149 patients, the first in Korea, showed X-linked inheritance in patients with a sole anomaly.

• Journal of Korean Dental Science
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• v.3 no.1
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• pp.17-24
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• 2010

Objective : To investigate the prevalence of dental anomalies and to determine the associations between dental anomalies in permanent teeth Materials and methods : The samples were 1,240 patients (760 females and 480 males, mean age=15.1 years) who visited the Samsung Medical Center. Dental anomalies were diagnosed using pre-treatment dental casts, radiographs, clinical examinations, and medical/dental histories. Prevalence and association were investigated according to gender and sidedness. The Chi-square test was performed for statistical analysis. Results : The most common missing tooth was the lower lateral incisor, followed by the lower and upper second premolars. This particular dental anomaly is characteristic of the East Asian population (prevalence of congenital missing tooth=12.3%). The upper anterior area was the most frequently affected area (prevalence of supernumerary tooth was 1.5%). The presence of a supernumerary tooth was more prevalent in males than in females (p<.05, odds ratio=3.2). The most frequently affected tooth was the upper canine (prevalence of impacted tooth=4.3%). Unilateral impaction of the upper canine occurred significantly more often compared to bilateral impaction (p<.001). The prevalence of peg lateralis was 2.7%. The presence of congenital missing tooth was closely associated with peg lateralis (p<.01). If children aged 7~8 years have peg lateralis, the rest of the teeth should be checked for congenital absences. Conclusion : The early detection of dental anomalies and understanding of their associations help clinicians determine the appropriate treatment timing and methods of dealing with these anomalies.

• Advances in pediatric surgery
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• v.3 no.2
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• pp.117-125
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• 1997

Seventy neonates with congenital intestinal atresia and stenosis who were treated at pediatric surgical service. Hanyang University Hospital from September 1979 to December 1996 were analyzed retrospectively. The lesion occurred in 27 cases at the duodenum, in 26 cases at the jeiunum, in 13 cases at the ileum and in 2 cases at the pylorus and colon each. There were 10 multiple atresias and 7 apple-peel anomaly cases. The atresia predominated over the stenosis by the ratio of 4 : 1. Male to female ratio was 1.3 : 1. The average gestational age was 38 weeks, and the average birth weight was 2,754 grams. Though 22.9 % were borne prematurely and 34.3 % had low birth weight, 92.3 % of them had a weight appropriate for gestational age. Polyhydramnios(40 %) was more frequently observed in duodenal and jeiunal atresia while microcolon in ileal atresia(58.3 %). Weight loss and electrolyte imbalance occurred more frequently in the duodenal stenosis cases because of delayed diagnosis. Twenty(55.6 %) of 37 jeiunoileal atresia cases had evidence of intrauterine vascular accident : 4 intrauterine intussusception, 3 intrauterine volvulus and 3 strangulated intestine in gastroschisis, and 10 cases of intrauterine peritonitis. There were one or more associated anomalies in 45 patients (64.3 %). Preoperatively proximal loop volvulus developed in 3 cases and proximal loop perforation in 5 cases and one case each of distal loop perforation, duodenal perforation and midgut volvulus occurred in the jeiunoileal atresia. Overall mortality rate was 20 %.

• Neonatal Medicine
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• v.15 no.1
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• pp.89-93
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• 2008

Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features and congenital malformations. His karyotype was 46,XY, add(12)(p13.3). He has suffered from intrauterine growth restriction at birth. He showed abnormal cranio-facial findings such as microcephaly, hypognathia, clepft palate and low set ear. He presented with absence of uvula, micropenis and rocker bottom features of both feet, congenital heart disease, poor corticomedullary differentiation of kidney, and sensorineuronal hearing loss. We have been follow up him for seizure disorder and delayed development at out patient department.

• Journal of Yeungnam Medical Science
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• v.15 no.1
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• pp.67-74
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• 1998

Successful management of duodenal obstruction in newborn infant implies not only satisfactory nutrition but also achievement of normal growth. To aid early diagnosis and management, we evaluated the diagnostic methods, operative interventions and clinical characteristics of thirty-nine infants with congenital duodenal obstructions. In the 11-year period from July 1986 through June 1997, thirty-nine patients with congenital duodenal obstruction (23 males and 16 females) were treated and reviewed at the Department of Pediatric Surgery, Yeungnam University Hospital. The ratio of male to female was 1.4:1, and 29 cases(74.1%) among total 39 patients were newborn. There were 5 premature patients and 16 patients of small for gestational age. The most common causes of the congenital duodenal obstruction was malrotation (26 cases, 66.7%) and followed by annular pancreas (9 cases, 23.1 %), type 1 atresia (3 cases, 7.7%) and wind-sock anomaly (1 case, 2.6%). Common symptoms were vomiting, abdominal distention, jaundice. Plain abdominal X-ray study combined with upper gastrointestinal series was the most commonly used diagnostic method. The operative procedures were performed by same pediatric surgeon utilizing Ladd's procedure in 26, duodenoduodenostomy in 8, duodenojejunostomy in 4, excision of wind-sock membrane in 1. A total of 15 associated congenital anomalies were found in 9 patients. Postoperative complications occurred in 13(33.3%). Overall mortality was 2.6%(1/39). Bilious vomiting and plain abdominal radiologic study were most useful for the diagnosis of congenital duodenal obstruction. Early diagnosis and operative intervention were important to prevent complications such as sepsis and peritonitis.

• Journal of Chest Surgery
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• v.29 no.11
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• pp.1202-1206
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• 1996

Ebstein's anomaly is an unusual and a rare congenital cardiac malformation but characteristic abnormality of the development of the tricuspid valve, right atrium and ventricle. The characteristic findings are a displaced tricuspid valve with a septal leaflet spiralling into the right ventricle. The surgical correction is variable and are left unsolved problem in surgical treatment of anomaly. Between January 1988 ＆ December 1995, we experienced 11 cases of Ebstein's anomaly and associated cardiac anomalies are ASD, PFO, ASD with VSD. The typically displaced tricuspid valve leaflet was found in all cases. In the NYHA functional classification, three were in class II, seven were in class III, and one was in class IV. Nine patients were operated by tricuspid annuloplasty ＆ plication with Danielson's method and two patients were done by tricuspid valve replacement with plication, and in all cases associated anomaly was corrected. Postoperatively, five patients suffered from complication - low cardiac output syndrome, arrhythmia and wound infection. There was no operative mortality and the postoperative courses were relatively good conditions with more improvement of symptoms.

• Journal of Chest Surgery
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• v.33 no.7
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• pp.594-596
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• 2000

Congenital cystic adenomatoid malformation and Extralobar Pulmonary sequestration are very rare congenital anomalies. We experienced a 4 year-old female patient who had Congenital cystic adenomatoid malformation in her lower lobe of left lung. We accidently found extralobar pulmonary sequestration associated with Congenital cystic adenomatoid malformation at operation field. The resection of the left lower lobe and the extralobar pulmonary sequestration were performed. The arterial supply of the extralobar pulmonary sequestration was one anomalous artery arised from the thoracic aorta. The Venous drainage of expralobar pulmonary sequestration was intercostal vein into the azygous vein. The patient was discharged without any problem.

• Journal of Chest Surgery
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• v.38 no.8 s.253
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• pp.583-588
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• 2005

Congenital tracheal stenosis can be a life-threatening disease, especially in cases involving the long-segment of the trachea. When patients are symptomatic immediately after birth or develop an accompanying complex cardiac anomaly, surgical repair can be a considerable challenge. We experienced a tracheoplasty in one early infant weighing 2.6 kg and one neonate who had ventilator dependency from long-segment congenital tracheal stenosis and congenital cardiac anomaly. One early infant, who had diffuse stenosis of distal trachea after ventricular septal defect closure, underwent resection and extended end to end anastomosis. One neonate who had diffuse stenosis of proximal trachea with tetralogy of Fallot (TOF), underwent slide tracheoplasty with total correction for TOF Postoperative chest computed tomography showed widely patent trachea. Both infants are now well without symptoms.