• Toxicological Research
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• v.17
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• pp.11-16
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• 2001

The development of the central nervous system is a continuous process during the embryonic and fetal periods. For a better understanding of congenital anomalies of central nervous system, three major events of normal development, i.e., neurulation (3 to 4 weeks), brain vesicle formation (4 to 7 weeks) and mantle formation (over 8 weeks) should be kept in mind. The first category of anomalies is neural tube defect. Neural tube defects encompass all the anomalies arise in completion of neurulation. The second category of central nervous system anomalies is disorders of brain vesicle formation. This is anomaly that applies for "the face predicts the brain". Holoprosencephaly covers a spectrum of anomalies of intracranial and midfacial development which result from incomplete development and septation of midline structures within the forebrain or prosencephalon. The last category of central nervous system malformation is disorders involving the process of mantle formation. In the human, neurons are generated in two bursts, the first from 8 to 10 weeks and next from 12 to 14 weeks. By 16 weeks, most of the neurons have been generated and have started their migration into the cortex. Mechanism of migration disorders are multifactorial. Abnormal migration into the cortex, abnormal neurons, faulty neural growth within the cortex, unstable pial-glial border, degeneration of neurons, neural death by exogenous factors are some of the proposed mechanism. Agyria-pachygyria are characterized by a four-layerd cortex. Polymicrogyria is gyri that are too numerous and too small, and is morphologically heterogeneous. Cortical dysplasia is characterized by the presence Q[ abnormal neurons and glia arranged abnormally in focal areas of the cerebral cortex. Neuroglial malformative lesions associated with medically intractable epilepsy are hamartia or hamartoma, focal cortical dysplasia and microdysgenesis.ysgenesis.

• 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.

• Toxicological Research
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• v.22 no.3
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• pp.157-220
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• 2006

This paper presents the first version of a Korean glossary of terms for structural developmental abnormalities in common laboratory animals, mainly rats, mice and rabbits. This is a translation of the glossary entitled Terminology and Developmental Abnormalities in Common Laboratory Mammals that was edited by the International Federation of Teratology Societies(IFTS) Committee on International Harmonization of Nomenclature in Developmental Toxicology. The purpose of the Korean glossary is to provide a common vocabulary that will reduce confusion and ambiguity in the description of developmental effects, particularly in submissions to regulatory agencies worldwide. The glossary contains a primary term or phrase, a definition of the abnormality, and notes, where appropriate. Selected synonyms or related terms, which reflect a similar or closely related concept, are noted. Non-preferred terms are indicated where their usage may be incorrect. Modifying terms used repeatedly in the glossary(e.g., absent, branched) are listed in Appendix A, and syndrome names are generally excluded from the glossary, but are listed separately in Appendix B. The glossary is organized into broad sections for external, visceral, and skeletal observations, then subdivided into regions, structures, or organs in a general overall head to tail sequence. Numbering is sequential, and not in any regional or hierarchical order, Uses and misuses of the glossary are discussed. Updates of the Korean glossary are planned based on the comments received.

• Korean Journal of Radiology
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• v.20 no.4
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• pp.662-670
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• 2019

Objective: A developmental venous anomaly (DVA) is a vascular malformation of ambiguous clinical significance. We aimed to quantify the susceptibility of draining veins (χ_vein) in DVA and determine its significance with respect to oxygen metabolism using quantitative susceptibility mapping (QSM). Materials and Methods: Brain magnetic resonance imaging of 27 consecutive patients with incidentally detected DVAs were retrospectively reviewed. Based on the presence of abnormal hyperintensity on T2-weighted images (T2WI) in the brain parenchyma adjacent to DVA, the patients were grouped into edema (E+, n = 9) and non-edema (E-, n = 18) groups. A 3T MR scanner was used to obtain fully flow-compensated gradient echo images for susceptibility-weighted imaging with source images used for QSM processing. The χ_vein was measured semi-automatically using QSM. The normalized χ_vein was also estimated. Clinical and MR measurements were compared between the E+ and E- groups using Student's t-test or Mann-Whitney U test. Correlations between the χ_vein and area of hyperintensity on T2WI and between χ_vein and diameter of the collecting veins were assessed. The correlation coefficient was also calculated using normalized veins. Results: The DVAs of the E+ group had significantly higher χ_vein (196.5 ± 27.9 vs. 167.7 ± 33.6, p = 0.036) and larger diameter of the draining veins (p = 0.006), and patients were older (p = 0.006) than those in the E- group. The χ_vein was also linearly correlated with the hyperintense area on T2WI (r = 0.633, 95% confidence interval 0.333-0.817, p < 0.001). Conclusion: DVAs with abnormal hyperintensity on T2WI have higher susceptibility values for draining veins, indicating an increased oxygen extraction fraction that might be associated with venous congestion.

• Journal of the Korean Society of Radiology
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• v.83 no.1
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• pp.199-205
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• 2022

Developmental venous anomalies (DVAs) are common intracranial vascular malformations and they are generally do not cause clinical complications. In cases showing DVA and hemorrhage, the hemorrhage is usually associated with adjacent cavernous malformations. Very few cases of intracerebral hemorrhage (ICH) caused by thrombosis in DVA have been reported in the literature. In this case report, we present an interesting case of a large ICH caused by thrombosis within a DVA with an unusual structure that may have potentiated the thrombosis.

• Journal of the korean academy of Pediatric Dentistry
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• v.47 no.2
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• pp.128-139
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• 2020

The purpose of this study was to examine the prevalence of developmental anomalies of permanent lateral incisor and eruption disturbances and analyze the association between two components. Panoramic radiographs of 3984 patients (aged 5 to 13 years) who visited the Department of Pediatric Dentistry of Seoul National University Dental Hospital between November 2016 and October 2017 were screened. The prevalence of developmental anomalies of permanent lateral incisors was 10.2%. The most common developmental anomalies were congenitally missing teeth(66.1%), followed by peg lateralis(33.5%). The prevalence of eruption disturbances was 16.5%. Among the patient with developmental anomalies of permanent lateral incisors, associated eruption disturbances were appeared on 31.1% of patients. Peg lateralis(p < 0.001), underdeveloped lateral incisors(p < 0.001) and dens invaginatus(p = 0.004) were associated significantly with eruption disturbance of permanent teeth. Eruption disturbance in patients with peg lateralis and dens invaginatus was most prevalent in maxillary canine. For patients with underdeveloped lateral incisor, eruption disturbance of maxillary central incisor was most frequent. It is important for patients with developmental anomalies of lateral incisors to detect associated eruption disturbance early through regular checkup. Diagnosis and treatment plan in view of such relationships is important in order to treat appropriately at the optimal time.

• Investigative Magnetic Resonance Imaging
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• v.19 no.3
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• pp.146-152
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• 2015

Purpose: The purpose of this study was to evaluate the associated brain parenchymal abnormalities of developmental venous anomalies (DVA) with susceptibility-weighted image (SWI). Materials and Methods: Between January 2012 and June 2013, 2356 patients underwent brain MR examinations with contrast enhancement. We retrospectively reviewed their MR examinations and data were collected as per the following criteria: incidence, locations, and associated parenchymal signal abnormalities of DVAs on T2-weighted image, fluid-attenuated inversion recovery (FLAIR), and SWI. Contrast enhanced T1-weighted image was used to diagnose DVA. Results: Of the 2356 patients examined, 57 DVAs were detected in 57 patients (2.4%); 47 (82.4%) were in either lobe of the supratentorial brain, 9 (15.7%) were in the cerebellum, and 1 (1.7%) was in the pons. Of the 57 DVAs identified, 20 (35.1%) had associated parenchymal abnormalities in the drainage area. Among the 20 DVAs which had associated parenchymal abnormalities, 13 showed hemorrhagic foci on SWI, and 7 demonstrated only increased parenchymal signal abnormalities on T2-weighted and FLAIR images. In 5 of the 13 patients (38.5%) who had hemorrhagic foci, the hemorrhagic lesions were demonstrated only on SWI. Conclusion: The overall incidence of DVAs was 2.4%. Parenchymal abnormalities were associated with DVAs in 35.1% of the cases. On SWI, hemorrhage was detected in 22.8% of DVAs. Thus, we conclude that SWI might give a potential for understanding of the pathophysiology of parenchymal abnormalities in DVAs.

• The korean journal of orthodontics
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• v.47 no.6
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• pp.384-393
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• 2017

Fusion of teeth is a developmental anomaly. It occurs at the stage of tooth formation, which determines the shape and size of the tooth crown, when one or more teeth fuse at the dentin level during the morphodifferentiation of the dental germs. Such teeth show macrodontia and may cause crowding, as well as esthetic and endodontic problems. In this article, we report a rare case of a maxillary central incisor fused to a supernumerary tooth showing labial and palatal talon cusps, which was orthodontically moved across the midpalatal suture. A 13-year-old Caucasian boy sought treatment for the unesthetic appearance of his maxillary central incisor and anterior crowding. He was rehabilitated successfully via a multidisciplinary approach involving orthodontic, nonsurgical endodontic, periodontal, and prosthodontic treatments. After a 26-month treatment period, the patient's macroesthetics and microesthetics were improved. The overall improvement of this macrodontic tooth and its surrounding tissues through multidisciplinary treatment was documented using cone-beam computed tomography.

• Journal of Chest Surgery
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• v.26 no.4
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• pp.312-315
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• 1993

The malformation consisted of persistent left SVC terminating in left atrium, absence of coronary sinus, and atrial septal defect is considered as a developmental complex anomaly. We observed such a case associated with partial atrioventricular canal defect and common atrium. We operated it by intraatrial roofing [tunneling] along its course of the posterior wall of the left atrium using bovine pericardial patch, which was designed to contain some of thebesian veins, thereby, left superior vena caval and some coronary venous blood would be drained into venous side. Associated lesions were also corrected.

• The Korean Journal of Pain
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• v.11 no.1
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• pp.134-137
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• 1998

The presence of an enlarged transverse process on one or both sides of the last lumbar vertebra is a common congenital anomaly of the lumbar vertebra. It is thought to be a genetic or developmental anatomical variant. The first reported assimilation of the fifth lumbar vertebra into the sacrum associated with low back pain was in 1917 by Bertolotti. However, clinical significance of lumbosacral transitional vertebra has not been fully considered due to lack of scientific investigations dealing with it. We experienced a case of symptomatic lumbosacral transitional vertebra during management of low back pain. Low back pain was relieved after infiltration of local anesthetics and steroid into the false joint of lumbosacral transitional vertebra. This result may possibly indicate a significant correlation between low back pain and lumbosacral transitional vertebra.