• Journal of Genetic Medicine
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• v.5 no.1
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• pp.1-6
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• 2008

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.8.1-8
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• 1978

Waardenburgs syndrome is estimated to account for 1 to 7% of all congenital deafness. The primary features of the syndrome include lateral displacement of the medial canthi and lacrimal punctae, a flat nasal root, white forelock, unilateral or bilateral congenital deafness, some degree of heterochromia of the iris, and hyperplasia of the eyebrow. This syndrome was described at first by Waardenburg in 1951, and since that time there have been reports of the same syndrome in both the English (Partington, 1959) and American (Di George) literature. The authors have experienced 3 cases of Waardenburgs syndrom, and report these cases with literature review.

• Journal of Chest Surgery
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• v.28 no.11
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• pp.977-982
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• 1995

Early repair of complex congenital heart malformation may lead to life-threatening respiratory and hemodynamic embarrassment on sternal closure. We performed delayed sternal closure in nine neonates to avoid a fatal outcome in these situations. Primary elective open sternum was used in 8 [66.7% and primary sternal closure in 4 [33.3% of the 12 patients studied. one patient with primary sternal closure underwent delayed sternal reopening in the intensive care unit. Of the 9 patients with open sternum, 2 patients died of low cardiac output and acute renal failure respectively before delayed sternal closure. 7 patients could undergo delayed sternal closures 3 days after initial operation. The mean age at open cardiac procedure was 14.3 days [range 3 to 30 and mean preoperative weight was 3.4kg [range 2.8 to 4.1 . The aortic cross-clamping time was longer in the group with open sternum than the group with closed sternum [p=0.042 . There was no morbidity and mortality related to delayed sternal closure. Given the low morbidity and potential benifits, this technique should be used in neonates after open heart procedures when postoperative mediastinal compression produces frank low cardiac output or respiratoy compromise during a trial of sternal closure.

• Journal of Chest Surgery
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• v.15 no.4
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• pp.373-380
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• 1982

Experience with intracardiac surgery in infants indicates that for most anomalies the operation and late mortality after primary total correction is lower than the combined mortality after early palliation and delayed correction. In addition, there are secondary benefits of primary total correction in terms of reversal of retarded physical growth and social development and alleviation of parental anxiety. One hundred and fifteen infants under 2 years of age with congenital cardiac anomalies underwent primary surgical intervention at Seoul National University Hospital from Jan. `78 to Sep. `82. There were 70 patients with VSD, 17 patients with TOF, 10 patients with TGA, 4 patients with ASD, 4 patients with TA, 3 patients with TAPVR, and the remainders are Coronary AV Fistula, partial ECD+COA, SV, DORV, PA, Trilogy+PDA. The overall surgical mortality was 18.3%. In acyanotic group 6 patients died among 76 operated patients, and surgical mortality was 6.6%. But in cyanotic group, the mortality was very high as41.0% [16 patients among 39 patients]. This poor surgical result in cyanotic group was due to Improper pre-, intra- and post-operative care, and we are convincing that these factors soon be improved as experiences accumulated.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.625-630
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• 2009

Root resorption of primary teeth usually occurs as the succeeding permanent teeth erupt, which induces differentiation of the hemopoietic cells into osteoclasts. Their root resorption pattern reflects the eruption path of the succeeding permanent teeth, and eventually the primary teeth shed as their succeeding permanent teeth erupt. Even when a permanent tooth germ is congenitally missing, root resorption of the corresponding primary tooth may still occur due to various factors, such as inflammation, traumatic occlusal force, and weakness of periodontium etc. Such congenital missing of permanent teeth is a commonly observed phenomenon in human be ing, and it often accompanies delayed retention of primary teeth. The etiologic factors for congenital missing in elude not only systemic diseases, but also local factors and human evolution process. In the radiographs of the cases in this report, the primary teeth without succeeding permanent teeth show pathologic root resorption. Root resorption progressed about 1/2~3/4 of the roots, and the surfaces of the resorption area were irregular. Considering high susceptibility of the periodontal ligament of primary teeth to root resorption, pathologic root resorption of primary teeth with delayed retention can be explained by the increased masticatory muscle force and abnormal occlusion developed during the mixed dentition. When the primary teeth without succeeding permanent teeth are lost, decision for space maintenance is required and long-term treatment plan for further prosthetic or orthodontic treatment should be establsihed.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.4
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• pp.673-677
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• 2003

Congenital aglossia is a very rare condition. The oral manifestations of an aglossia include micrognathia, high arched or cleft palate, defects of the lower lip, an absence of lateral incisors and a mandibular growth deficiency. Although the etiology of congenital aglossia is unclear, both genetic and teratogenic mechanisms have been proposed. Treatment of aglossia patients depends on the nature and severity of the condition which includes surgical rehabilitation of the tongue tip to some extent, orthopedic expansion of the mandible to guide mandibular growth, and mandibular expansion by a distraction osteogenesis. In the present case, a 6 year old female aglossia patient with situs inversus was treated. A bonded hyrax screw was used to increase her mandibular primary intercanine width and intermolar width. A second phase orthodontic and surgical treatment will be possible after some retention phase.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.2
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• pp.147-162
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• 2022

Purpose: To design a prospective study on endovascular closure of congenital portosystemic shunts. The primary endpoint was to assess the safety of endovascular closure. The secondary endpoint was to evaluate the clinical, analytical and imaging outcomes of treatment. Methods: Fifteen patients (age range: 2 days to 21 years; 10 male) were referred to our center due to congenital portosystemic shunts. The following data were collected prior to treatment: age, sex, medical history, clinical and analytical data, urine trimethylaminuria, abdominal-US, and body-CT. The following data were collected at the time of intervention: anatomical and hemodynamic characteristics of the shunts, device used, and closure success. The following data were collected at various post-intervention time points: during hospital stay (to confirm shunt closure and detect complications) and at one year after (for clinical, analytical, and imaging purposes). Results: The treatment was successful in 12 participants, migration of the device was observed in two, while acute splanchnic thrombosis was observed in one. Off-label devices were used in attempting to close the side-to-side shunts, and success was achieved using Amplatzer™ Ductus-Occluder and Amplatzer™ Muscular-Vascular-Septal-Defect-Occluder. The main changes were: increased prothrombin activity (p=0.043); decreased AST, ALT, GGT, and bilirubin (p=0.007, p=0.056, p=0.036, p=0.013); thrombocytopenia resolution (p=0.131); expansion of portal veins (p=0.005); normalization of Doppler portal flow (100%); regression of liver nodules (p=0.001); ammonia normalization (p=0.003); and disappearance of trimethylaminuria (p=0.285). Conclusion: Endovascular closure is effective. Our results support the indication of endovascular closure for side-to-side shunts and for cases of congenital absence of portal vein.

• Journal of Preventive Medicine and Public Health
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• v.34 no.4
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• pp.427-436
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• 2001

Objective : To estimate the prevalence of congenital heart disease from the 1990 student heart disease screening program. Methods : The heart disease screening program for elementary students was conducted in Kyonggi-do, in 1998. The subjects of the present study comprised the 40,402 students who attended the schools in the catchment area of a collaborative university hospital and who participated in the primary examination. The congenital heart disease (CHD) patients were initially identified through a questionnaire about prior medical history, and further through diagnostic tests & medical examinations in the secondary & the tertiary examinations. Certain assumptions were used in the estimation of the number of CHD cases among non-participants of the secondary & tertiary examinations. The overall prevalence of CHD was estimated by adding the CHD detection rates of the participants and the estimated prevalence of the non-participants. Results : Among the 40,402 primary participants, 1,655 were referred further, of whom 79.1% (1,309) participated in the secondary examination. Of these, 121 were referred to the tertiary examination, with a participation rate at this last stage of 80.2%. The positive predictive value (PPV) of the screening tools was the highest when the results of both EKG and the questionnaire were positive. Because 85.9% of the detected cases had a past history of CHD, PPV was higher when the selection criteria in the questionnaire included past CHD history than when it didnt. The CHD defection rate among the participants was 1.76 cases/1,000 and the presumed number of cases among the non-participants was 31; giving an estimated final CHD prevalence of 2.52 cases/1,000 (95% CI : 2.06-3.06). Among the identified cases of CHD, VSD (52.8%) was the most common, followed by PDA (9.7%), TOF (9.7%) & PS (9.7%). Conclusion : Because the characteristics of the non-participants differed from those of the participants, the estimation of prevalence was influenced by the participation rate. Of the detected cases, 85.9% had a past history of diagnosis or operation for CMD. These findings suggested that the prevalence estimated in this study may be an underestimation of the actual condition. Therefore, a birth cohort study is required in order to more accurately estimate the prevalence and the effects of the program.

• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.313-319
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• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.2
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• pp.233-239
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• 2010

Space loss of dental arch can appear when the proper position of teeth within the dental arch changes by a certain cause, because the balance of force makes changes about tooth position as well as alignment. The causes of space loss include proximal caries, early extraction, congenital missing of a tooth and hypodontia, etc. Among those causes of space loss, congenital missing of a tooth is more rarely observed in the primary dentition than in the permanent dentition. Congenital missing in the primary dentition is associated with that in the permanent dentition. Furthermore, it can cause space problem, such as mesial tilting or drift of adjacent teeth, space loss for permanent successors and dental arch constriction, etc. Primary lateral incisors is the most commonly involved, in the maxilla rather than in the mandible, but primary canine is rarely reported. In this patient, who visited the department of pediatric dentistry at Yonsei university dental hospital, it was observed that the maxillary right primary canine was congenitally missing and an odontoma was found insteadly. However, neither the space loss for the congenitally missing primary canine nor midline deviation is remarkable during the 2-year-10-month observation period. In addition, any clinical or radiographical symptom did not occur in spite of odontoma. Therefore, surgical enucleation of odontoma is planned according to the eruption of permanent lateral incisor or canine, unless eruption failure of permanent lateral incisor or canine nor cystic change around the odontoma is occurred. Through further evaluation, space maintainer or orthodontic treatment may be necessary.