• Journal of Korean Neurosurgical Society
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• v.45 no.1
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• pp.46-49
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• 2009

Developmental venous anomalies (DVAs) are hemodynamically low flow, low resistance vascular malformations without clinical significance. Although most DVAs are asymptomatic and are found incidentally, sometimes they can be symptomatic with intracerebral hemorrhage, many of which are usually caused by associated cavernous malformations (CMs) rather than the DVAs themselves. Only a few cases have been reported in the literature where an intracerebral hemorrhage has been caused by a DVA alone. This report describes a case of an intracerebral hemorrhage due to DVA alone with review of the literature.

• The korean journal of orthodontics
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• v.20 no.3 s.32
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• pp.593-608
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• 1990

Facial cleft is not a common anomaly of craniofacial region. But it is often accompanied with cleft lip and/or palate, so it seems important to orthodontist. Facial cleft is defined as a fissure or elongated opening of the facial region, and it's etiology is the failure of the fusion of the parts which will form the face in embryonic developmental period. Facial cleft can be classified according to the time of occurrence and the area involved during developmental period. It developes 1-2.5 weeks earlier than cleft lip and/or cleft palate. In facial cleft, the deformity is generally confined to the facial region, but sometimes deformity of other body region can accompany. The interaction of the facial cleft and the genetic anomaly is not confirmed, but genetic anomaly is known to be able to occur with the patient with other anomaly of body. As an orthodontist we should know the general considerations of facial cleft and it's treatment procedures other than orthodontic treatment.

• Proceedings of the KSMRM Conference
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• 2002.11a
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• pp.86-86
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• 2002

Purpose： To evaluate the white matter fiber configuration in various developmental CNS anomaly 대상 및 방법： Jubert Syndrome, congenital schizencephaly, callosal agenesis and hemiplegic cerebral palsy patients were evaluated by diffusion tensor MRI. All studies were performed using a 1.5T Philips Gyroscan Intern system. Diffusion weighted imaging was performed using single-shot echo planar imaging, with navigator echo phase correction and SENSE. Diffusion weighting was performed along six independent axes, using diffusion weighting of b=600s/$\textrm{mm}^2$. 128 matrix/zero filled to 256, 23cm FOV, 3mm slice thickness were used for imaging parameters. Data were processed on a Window-2000 PC equipped with IDL and PRIDE (Philips Medical System).

• Journal of Chest Surgery
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• v.10 no.1
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• pp.118-123
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• 1977

Congenital cystic disease of the lung is very rare and controversial disease. But in general is regarded as developmental anomaly. Occasionally failure of the primitive lung bud to develop combined with cardiac anomaly had been reported but it was very rare. Recently a case of cystic lung disease combined with pulmonic valvular stenosis was seen in this clinic with clinical pictures of nonspecific respiratory infection and X-ray finding very similar to that of far advanced pulmonary tuberculosis, destroyed left lung. This case was treated by closed pulmonic valvulotomy and left side pneumonectomy successfully.

• 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.

• Journal of Korean Neurosurgical Society
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• v.29 no.3
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• pp.402-406
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• 2000

The term 'craniovertebral junction' refers to the occipital bone that surrounds the foramen magnum and the atlas and the axis vertebrae. A wide variety of congenital, developmental, and acquired anomalies exist at the craniovertebral junction. The authors present a rare case of the congenital anomaly of the craniovertebral junction consisting of atlantal hypoplasia, atlantal assimilation, and basilar invagination in a 58-year-old male. An occiput-C2 arthrodesis was performed. The clinical and imaging features are described, and the embryology and etiology of this anomaly are discussed.

• Imaging Science in Dentistry
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• v.43 no.3
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• pp.209-213
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• 2013

It has been a challenge to establish the accurate diagnosis of developmental tooth anomalies based on periapical radiographs. Recently, three-dimensional imaging by cone beam computed tomography has provided useful information to investigate the complex anatomy of and establish the proper management for tooth anomalies. The most severe variant of dens invaginatus, known as dilated odontome, is a rare occurrence, and the cone beam computed tomographic findings of this anomaly have never been reported for an erupted permanent maxillary central incisor. The occurrence of talon cusp occurring along with dens invaginatus is also unusual. The aim of this report was to show the importance of cone beam computed tomography in contributing to the accurate diagnosis and evaluation of the complex anatomy of this rare anomaly.

• Journal of Chest Surgery
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• v.23 no.5
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• pp.1027-1034
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• 1990

Pectus excavatum, commonest developmental anomaly of chest wall, is manifested by depression of the sternum and lower costal cartilages that is of surgical interest. From 1982 through 1990, fifteen patients have undergone surgery for treatment of pectus excavatum and treated by Ravitch operation: 5, Modified Ravitch operation; 4, Wada operation, 1 and Modified Wada operation, 5. There was familial history of pectus excavatum in 3 patients. Associated congenital anomaly were seen in 6 patients; scoliosis in 3 patients, right inguinal hernia in 1, polydactyly in 1 and patent ductus arteriosus in 1 patent. Postoperative minor complications were developed in 3 cases; pneumothorax, 2 cases; pleural effusion, 2 cases; wound infection and dehiscence, 1 cases; pressure sore due to strut malposition, 2 cases; flail chest and 2 cases; seroma. The incidence of the postoperative complications were more common in cases who were treated by metal strut, pin or other prosthetic materials for supporting the chest wall integrity than the standard corrective procedure. All cases have no recurrence of chest wall depression and operative death.

• Journal of Korean Neurosurgical Society
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• v.67 no.3
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• pp.270-279
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• 2024

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.