• 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.

• Clinical and Experimental Pediatrics
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• v.50 no.3
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• pp.311-315
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• 2007

This is the first case of a de novo balanced translocation 46, XY, t(3;17)(p12.2;q25) associated with multiple musculoskeletal abnormalities, including Sprengel's deformity (congenital undescended scapula to be reported). This translocation has not been described previously with this congenital anomaly in Korea.

• Journal of Chest Surgery
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• v.33 no.9
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• pp.752-755
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• 2000

Isolated congenital aneurysm of the left atrium with intact pericardium is a rate anomaly, which usually presents with arrhythmia, cerebral embolism or abnormalities on routine chest X-ray. Surgery is indicated in most cases to eliminate a potential source of systemic emboli and arrhythmias. A 42-year-old woman having cervical cancer, she was suspected of having a left atrial aneurysm on review of chest X-ray and confirmed by echocardiography and cardiac catheterization. Surgical resection of Left atrial aneurysm was achieved without complication using median sternotomy with cardiopulmonary bypass. The postoperative course was uneventful.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.1
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• pp.108-112
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• 2001

Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.

• Korean Journal of Bronchoesophagology
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• v.11 no.2 s.22
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• pp.32-35
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• 2005

Laryngotracheoesophageal clefts are rare congenital anmalies of the upper aerodigestive tract. They range in severity from small soft tissue defects in the interarytenoid region to complete clefts of the larynx, trachea, and esophagus. Minor clefts with mild symptoms can be managed conservatively. But, major clefts requires prompt surgical managemet fur the best result. We report a case of a 1 month old male with laryngotracheoesophageal cleft. This cleft was corrected by thoracotomy and anterior laryngofissure approach.

• Korean Journal of Veterinary Research
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• v.31 no.3
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• pp.235-240
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• 1991

The abnormal male Newhampshire of five months age with three hindlimbs was examined macroscopically and radiographically The external feature included two normal wings, two normal hindlimbs and an underdeveloped extra hindlimb, which was attached to the pelvic region. The extra hindlimb consisted of an underdeveloped femur like bone, tibiotarsus likebone, tarsometatarsus like bone and three rows of digits with claw. The femur like bone was fused with pelvic girdle like bone. The bones of extra hindlimb were fused into one except one row of digit, which was attached to the tibiotarsus like bone. Three ceca and one cloaca with two vents were also observed.

• Archives of Craniofacial Surgery
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• v.24 no.3
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• pp.91-104
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• 2023

Unilateral cleft lip is a common congenital anomaly that affects the appearance and function of the upper lip and nose. Surgical repair of cleft lip aims to restore the normal anatomy and functionality of the affected structures. In recent years, several advances have been made in the field of cleft lip repair, including new surgical techniques and approaches. This comprehensive review discusses the surgical management of patients with unilateral cleft lip and palate and provides step-by-step instructions for the surgical procedures.

• Journal of Chest Surgery
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• v.16 no.2
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• pp.157-163
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• 1983

Ebstein's anomaly is a rare congenital cardiac malformation oand the ideal surgical correction seems controversial at present, and some problems are left unsolved in the surgical correction of this anomaly. Between June 1978 and June 1982, 12 patients with Ebsteins' anomaly underwent corrective open heart surgery at Seoul National University Hospital. Except for one patient, who had no ASD, all had a huge right atrium, secundum type ASD, and definite atrialized right ventricle. Typically, displaced tricuspid valve leaflets were found in all cases, but the degree of displacement and deformity were variable. In the point of NYHA functional classification, five were in class II, six were in class III, and one was in class IV. Ten patients were operated on by tricuspid valve replacement and pication. Two patients were operated on only by plication and annuloplasty techniques, and in all cases, ASD was closed. Postoperatively, four patients suffered from complete A-V block, and two of them died immediately. The remaining two patients took pacemaker generator implantation with good results. The other eight patients were in good condition. Tricuspid valve replacement using tissue valve and plication of the atrialized rght ventricle seems to be a good method of surgical correction for Ebstein's anomaly.

• Advances in pediatric surgery
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• v.8 no.2
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• pp.107-112
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• 2002

Branchial anomaly is a frequently occurring congenital abnormality in childhood. It is important for the pediatric surgeon alike to be familiar with the embryology and differentiation of head and neck structure to accurately diagnose and treat these lesions. Eighty-five patients with branchial anomaly treated at Hanyang University Hospital between 1980 and 2001 were reviewed to determine relative frequency, clinical classification and appropriate treatment. The male to female ratio of branchial anomaly was 1.2:1. The most commonly presenting age was before 1 year (32%) and the age group between 1 and 3 year (22%) followed it. According to the classification of branchial anomalies, 73 of 85 cases were second branchial anomaly, 9 had the first type and 3 did fourth type. One patient showed combined anomalies of the first and the second type. Infection sign were seen in 70% of patients at the time of the first visit to our hospital and also patients' symptoms were frequently related with the infection. Forty-one cases (48%) were fistula, 21 (25%) were cysts, 21 (25%) were sinuses, and two were only cartilage remnants. The most common type of the branchial anomalies is the second branchial fistula and the most common symptoms of the anomalies are related with infection. Initial proper diagnosis and anatomical classification of the anomalies are very important in managing the lesions. The efforts to find the exact anatomical location of the fistula or sinus tract are necessary because total excision of the lesions including those tracts is the only way to prevent recurrence.

• Journal of Korean Neurosurgical Society
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• v.49 no.3
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• pp.178-181
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• 2011

Congenital anomalies in arches of the atlas are rare, and are usually discovered incidentally. However, a very rare subgroup of patients with unique radiographic features is predisposed to transient quadriparesis after minor cervical or head trauma, A 46-year-old male presented with a 2-month history of tremor and hyperesthesia of the lower extremities after experiencing a minor head trauma. He said that he had been quadriplegic for about 2 weeks after that trauma. Radiographs of his cervical spine revealed bilateral bony defects of the lateral aspects of the posterior arch of C1 and a midline cleft within the anterior arch of the atlas. A magnetic resonance imaging revealed an increased cord signal at the C2 level on the T2-weighted sagittal image. A posterior, suboccipital midline approach for excision of the remnant posterior tubercle was performed. The patient showed significant improvement of his motor and sensory functions. Since major neurologic deficits can be produced by a minor trauma, it is crucial to recognize this anomaly.