• Korean Journal of Cleft Lip And Palate
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• v.4 no.2
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• pp.51-68
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• 2001

Midfacial hypoplasia in patients with clefts of the lip and palate is considered to be the result of congenital dysmorphogenesis. And cleft lip and palate developes facial deformity, jaw abnormality, speech problem, which is most frequent hereditary deformity in maxillofacial region. So cleft lip and palate is characterized by midface deformity which shaws maxillary anterior nasal septal deviation and deformity. Our study describes congenital correlates of midfacial hypoplasia by examining the displacement of a normal complement of parts, a triangular tissue deficiency low on the lip border on the columellar side, and a linear deficiency and displacement in the line of the bilateral cleft lip. 15 patients with bilateral cleft lip and palate were taken impression before operation, but the patient who had other abnormalities and complications were excluded. Average age is 3.4 months and they were classified into both complete, both incomplete and complete & incomplete group. The obtained results were as follows 1. There were no differences on intercanthal width and canthal width between each of the groups. 2. Both complete group had longer lateral ala length than both incomplete group, but there were no differences between both complete group and complete side of com. & incom. group and both incomplete group and incomplete side of com. & incom. group. 3. Columella length was greater in both incomplete group than in both complete group, but there was no difference between both complete group and complete side of com. & incom. group and both incomplete group and incomplete side of com. & incom. group. 4. Both complete group had longer ala width & ala base width than both incomplete group had. But there were no differences between both complete group and complete side of com. & incom. group and both incomplete group and incomplete side of com. & incom. group. 5. There were no differences between each of the groups on upper lip length, but nose/mouth width ratio was greater in both complete group than in both incomplete group. 6. Pronasale(pm), subnasle(sn), la~rale superioris(ls), stomion(sto) points were located around the central vertical line of face but deviated to incomplete side in com. & incom. group. 7. Nasal tip protrusion was greater in both incomplete group and com. & incom. group than both complete group, but there was no difference between both incomplete group and com. & incom. group.

• Childhood Kidney Diseases
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• v.20 no.1
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• pp.29-32
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• 2016

Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common anomalies identified in newborns. This study aims to demonstrate the prevalence of CAKUT including hydronephrosis diagnosed by antenatal and postnatal ultrasound over a five-year period. Methods: The records of births between May $1^{st}$, 2009 and April $30^{th}$, 2014 at our hospital were collected. The number of infants who underwent renal ultrasound after birth for the detection of CAKUT was counted. The incidence of each type of CAKUT such as hydronephrosis, size abnormality, horseshoe kidney, and Multicystic dysplastic kidney (MCDK) was retrospectively evaluated for antenatal screening and postnatal follow-up examination. Results: During the study period, 33,276 infants were born and 521 neonates underwent postnatal renal ultrasound. 183 cases of CAKUT were detected prenatally and 140 postnatally using ultrasonographic examinations at the following time: (i) 3-7 days postnatally in 123 newborns (87.9%), (ii) during 1-3 months in 11 newborns (7.9%), and (iii) later than 3 months in 6 newborns (4.3%). Among diagnosed CAKUT, hydronephrosis was the most common anomaly with 113 newborns diagnosed prenatally and 46 postnatally. Duplex kidney was the second most common anomaly followed by horseshoe kidney, simple cysts in the kidney and so on. Conclusion: The detection of CAKUT is an important part of the prenatal ultrasound. This study analyzed the prevalence of CAKUT detected on prenatal screening and compared the results to those detected postnatally. Prenatal ultrasound screening fulfills the needs of postnatal examinations and therefore, both antenatal and postnatal sonographic investigations are of vital importance for diagnosis of renal and urinary tract anomalies.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.510-514
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• 2003

The Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by dental and ocular abnormalities. The essential ocular features include partial or complete bilateral hypoplasia of the iris stroma, abnormalities of the angle structures with congenital iris adhesions, and anterior displacement of Schwalbe's corpuscles. Common oral findings are hypodontia(especially in anterior maxillary segment), microdontia, misshaped teeth, delayed eruption of the teeth. Additionally, other systemic symptoms can be seen and early detection by the pedodontist through dental diagnosis should prevent visual impairment.

• Tuberculosis and Respiratory Diseases
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• v.57 no.5
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• pp.489-493
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• 2004

Unilateral pulmonary artery agenesis is a rare congenital anomaly usually associated with other cardiovascular anomalies such as tetralogy of Fallot or septal defect. Unilateral pulmonary artery agenesis without other coexisting cardiovascular abnormality (isolated unilateral pulmonary artery) is extremely rare and often asymptomatic until adulthood. In these patients, diagnostic clue is found in a plain chest roentgenogram, showing a hyperlucent contracted hemithorax. We have recently experienced a case of isolated right pulmonary artery agenesis, which was diagnosed by chest dynamic CT, perfusion scan, echocardiogram and 3-dimensional reconstruction cardiac CT angiography in a 50-year old female who had suffered from mild dyspnea on exertion and improved with conservative treatment. We report this case with a brief review of the relevant literature.

• Neonatal Medicine
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• v.18 no.2
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• pp.404-408
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• 2011

Scimitar syndrome (SS) is a rare congenital anomaly characterized by hypoplasia of the right lung and partially anomalous pulmonary venous drainage to the inferior vena cava. The term scimitar derives from the shadow created by the anomalous pulmonary vein on chest X-ray that closely resembles that of a curved Turkish sword. It rarely presents as an isolated abnormality. Various cardiac and non-cardiac anomalies have been association with SS, such as right lung hypoplasia, dextroposition of the heart, hypoplasia of the right pulmonary artery, systemic arterial blood supply to the right lower lung from the infra-diaphragmatic aorta, and a secundum type of atrial septal defect. However, an imperforate anus has not been reported previously in association with SS. We describe the first case of infantile scimitar syndrome accompanied with an imperforate anus in a newborn who presented with tachypnea and right pulmonary atelectasis.

• Journal of radiological science and technology
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• v.2 no.1
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• pp.45-50
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• 1979

For this study, 2,712 sheets of the chest x-ray films of neonatuses, infants and early children were observed statistically and then the following results were obtained: 1. Seasonal increment of patients was overwhelming in spring and summer in compare with in autumn and winter. 2. Males was majority in distribution by sex. Neonatal and infancy group was the largest in number by forming 29.46% in distribution by age group and then follows six-years group(14.75%), one-year group(13.64%) and five-years group(12.61%) 3. In radiographical projection for chest, a great proportion was P-A projection as 53.72%. But, almost all the neonatal and infancy group and emergency patients were by A-P projection 4. As for x-ray findings, 78.47% was normality while 21.53% was abnormality. Tuberculosis(176 cases), was the largest in number in abnormal cases and next in rank was pneumonia(128 cases)and then congenital heart disease(82 cases). 5. Adequacy of exposure was disclosed as follows: 57.01% in correct-exposure 29.20% in over-exposure, 13.79% in under-exposure. 6. The x-ray beam was not restricted in 77.10% of total films. 7. "Good" formed 30.01% in position immobilizing of the patient and "ordinary" formed 38.02%, "bad" 31.97%. Especially, "Bad" formed high percentage in neonatal and infancy group.

• 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.

• Journal of Chest Surgery
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• v.40 no.7 s.276
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• pp.508-511
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• 2007

The causes of aortic dissection are usually hypertension, connective tissue disease such as Marfan syndrome, congenital valvular abnormality such as bicuspid aortic valve, iatrogenic injury, pregnancy and drugs. Previous studies have shown that 50% of all dissections in women less than 40 years age were associated with pregnancy. Almost all aortic dissections during pregnancy occur during the third trimester or during labor and delivery. Marfan's syndrome is a particularly important predisposing factor for aortic dissection during pregnancy. We report here on a case of surgical treatment for acute type II aortic dissection in a Marfan syndrome patient who was 24 weeks pregnant, and we include a review of literature.

• Clinical and Experimental Pediatrics
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• v.59 no.8
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• pp.341-345
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• 2016

Purpose: Venous angioma (VA) is the most common congenital abnormality of the intracranial vasculature. This study aimed to investigate the relationship between VA and epilepsy and to identify the characteristics of children with VA and epilepsy. Methods: The records of all patients aged less than 18 years who underwent brain magnetic resonance imaging (MRI) at Pusan National University Hospital were retrospectively reviewed. Patients with isolated VA and patients with normal MRI were compared in terms of the prevalence of epilepsy. Results: In total, 2,385 pediatric patients who underwent brain MRI were enrolled. Isolated VA was identified in 26 patients (VA group). Among the patients with normal MRI findings, 225 age- and sexmatched patients to the VA-group were assigned to the control group. Nine patients in the VA group (9 of 26, 34.6%) and 27 patients in the control group (26 of 225, 11.5%; P<0.001) had epilepsy. In the VA group, 20 patients (76.9%) had the VA in the cerebral hemispheres, and 6 patients (23.1%) had the VA in the brainstem and cerebellum. The latter showed a higher prevalence of epilepsy (5 of 6, 83.3%) than the former (4 of 20, 20.0%; P=0.004). Among the nine patients who had epilepsy with VA, patients whose VA involved the brainstem and cerebellum showed a significantly higher frequency of abnormal Electroencephalographic findings than patients whose VA involved the cerebral hemispheres (P=0.016). Conclusion: VA, especially in the brainstem and cerebellum, might be associated with epilepsy.

• Archives of Plastic Surgery
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• v.33 no.2
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• pp.237-240
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• 2006

The simultaneous correction of the hypertelorism and exophthalmos combined with craniosynostosis is very rarely performed operative procedures in the world. The craniosynostosis is the congenital anomaly that designates premature fusion of one or more sutures in either cranial vault or cranial base. Hypertelorism is not a distinct clinical syndrome in itself, but is a physical finding secondary to facial and cranial maldevelopment and it is defined as a increase in the distance between the medial orbital walls. Exophthalmos can occur following the decrease in the size of the orbit in patients with developmental skeletal disorders such as craniofacial synostosis. The authors experienced 9-year-old male patient, who has complex cranio-facial abnormality. The craniosynostosis was oxycephaly type and primary fronto-orbital advancement surgery had been performed in other hospital. The abnormal cranial vault combined with hypertelorism and exophthalmos due to maldeveloped both orbital walls. Surgical correction was obtained by various cranio-fronto-orbital remodeling technique such as calvarial bone craniotomy, fronto-orbital advancement, paramedian resection, medial canthopexy, Tessier-Wolfe three wall orbital expansions. We achieved a quite satisfactory result both functionally and aesthetically in a complex cranio-facial deformity patient by combination and modification of previously developed various cranio-facial plasty technique and hereby report the case with brief discussion and review of literature.