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Case Report
- VATER Association: Three autopsy case reports with imusual defects.
- Mi Ja Lee, Myeong Cherl Kook, Je G Chi
- Korean J Pathol. 1995;29(5):678-683.
- 1,493 View
- 10 Download
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Abstract
- VATER association represents vertebral defects, anal atresia, tracheo-esophageal fistula with without esophageal atresia, renal defects and radial limb dysplasia. The probability of the simultaneous occurrence of any three of these defects is so unlikely that it suggests a sporadic non-random association. This non-random association appears to be related to some chromosomal anomalies, the caudal regression syndrome, mesodermal defects in early developmental period or the matemal use of sex hormones during embryogenesis. We report three autopsy cases of the VATER association that showed most of the known major and minor defects as well as an unusual concurrence of other defects, i.e., scoliosis, talipes varus, absent penis, urethral agenesis and stenosis, rectourethral fistula, rib anomaly, single umbilical artery, Meckel's diverticulum, diaphragmatic hemia, absent rectum, short neck, simian crease, low set ear, and hypoplastic lung.
Original Articles
- Congenital Cystic Disease of the Kidney overview and a classification.
- Mee Joo, Yeon Mee Kim, Chong Jai Kim, Yeon Lim Suh, Jeong Wook Seo, Je Geun Chi
- Korean J Pathol. 1997;31(3):233-243.
- 1,558 View
- 22 Download
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Abstract
PDF - The congenital renal cystic disease encompasses a complex group of pathologic and clinical entities. We retrospectively reviewed 42 cases of congenital renal cystic lesions classified into four Potter types in a series of 2,063 consecutive autopsies from 1981 to 1996. According to our study based on morphologic, clinical, genetic features and associated anomalies, type I and III are relatively compatible with Potter's original definition. However, it was reasonable that type II and IV are classified to the same group because of: 1) very similar histologic findings representing dysplastic kidney, 2) many associated anomalies, 3) no evidence of inheritance, and 4) presence of a combined type. Syndrome associated cysts, such as Meckel-Gruber syndrome, were also separately classified. If the dysplastic evidence was insufficient for diagnosis to the dysplastic kidney in type II and IV, then these cases would be better classified into a cystic disease associated with congenital hydronephrosis. We propose a classification of the congenital cystic disease of the kidney to be: 1) dysplastic kidney, 2) cystic disease associated with congenital hydronephrosis, 3) polycystic kidney, and 4) syndromic cystic disease.
- Cystic Hygroma of the Neck Pathologic study of 26 autopsy cases.
- Yeon Lim Suh, Je Geun Chi
- Korean J Pathol. 1997;31(12):1256-1263.
- 2,876 View
- 96 Download
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Abstract
PDF
- Cystic hygroma is a congenital malformation of the lymphatic system appearing single or multiloculated fluid-filled cavities, most often around the neck. They often progress to hydrops and cause fetal death, and frequently associated with chromosomal abnormalities and other congenital malformations. The purpose of our study is to delineate the nature of cystic hygroma and determine the relationship between cystic hygroma and associated anomalies including fetal hydrops. We used data from 26 cases of cervical cystic hygroma in autopsy files of SNU Children's Hospital. Most of cystic hygroma were found in stillborn or premature infants. The fetal cases had been dead for a quite a long period since there was discrepancy between the true gestational age and the developmental age estimated from the body length. Of 26 fetuses only 2 were studied chromosomally and both of them showed 45X. Of 26 cystic hygromas 23 occurred in the posterior neck and 3 in the anterior neck. They ranged from 2.5 to 14 cm (mean: 7.9 cm). The cystic hygroma of the posterior neck consisted of two symmetric sacs on both sides and in the nape and extended to the occipital region. The cystic hygromas of the anterior neck were unilateral or bilateral, and multiloculated and extended into the adjacent cheek. Cystic hygromas of posterior neck were always associated with hydrops, while no recognizable hydrops was found in cystic hygromas of anterior neck. The cystic hygromas were larger in patients with severe hydrops than in patients with less severe hydrops. Associated abnormalities, found in 88%, included hydrops fetalis(88%), growth retardation(80%), cardiovascular anomalies(27%), horseshoe kidney(23%), skeletal anomalies(12%) and hypoxic changes(31%) in visceral organs. In summary, when a hygroma is detected during fetal life, careful sonographic examination for associated congenital anomalies, fetal karyotyping and consideration of artificial abortion are indicated.
Case Reports
- Arthrogryppsis Multiplex Congenita: Pathologic examination of three autopsy cases.
- Seung Sook Lee, Je G Chi
- Korean J Pathol. 1994;28(1):56-64.
- 1,491 View
- 17 Download
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Abstract
PDF
- Three autopsy cases of arthrogryposis multiplex congenita are studied. They were two deadborns and one neonatal death. All of them had characteristic abnormalities involving multiple joints. Neither primary myopathy nor abnormalities of anterior horn cells of the spinal cord were detected in our cases. However, two cases had minor central nervous system anomalies. All four cases showed pulmonary hypoplasia of varying degree. Two of three cases showed facial dysmorphism such as micrognathia and low set ears, and one showed cleft lip and palate. Ventricular septal defect, umbilical hernia and ureteral anomalies were also associated.
- Laryngeal Atresia with Tracheoesophageal Fistula: 1 case report.
- Eun Kyung Kim, Je G Chi
- Korean J Pathol. 1993;27(5):504-508.
- 1,670 View
- 19 Download
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Abstract
PDF
- Laryngeal atresia is a very rare congenital anomaly requiring immediate tracheotomy. We present a case of laryngeal atresia with tracheoesophageal fistula who showed immediate respiratory difficulty after ligation of umbilical cord and died of aspiration pneumonia at 8 days of age. The atretic portion of larynx is composed of irregulary arranged cartilaginous tissue, bundles of intrinsic muscle and soft tissue without epithelium-lined lumen. The lungs show normal development and evidences of aspiration pneumonia.
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