- Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17
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Jung O, Lee JH, Chun CS
- KMID: 2279254
- Korean J Pediatr.
- 2007 Mar;50(3):311-314.
- doi: 10.3345/kjp.2007.50.3.311
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... -
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- A Case of Intraspinal Dernoid Cyst in a Child
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Chung WK, Oh CI, Chang KH, Lee ER, Moon BK
- KMID: 2460621
- J Korean Orthop Assoc.
- 1979 Jun;14(2):225-229.
- doi: 10.4055/jkoa.1979.14.2.225
Intraspinal tumors in children are of especially interest to orthopaedic surgeons for two reasons; First, musculoskeletal abnormalities, are often treated for long periods before the correct diagnosls is suspected; Second,... -
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- Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies
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Ryu JK, Cho JY, Choi JS
- KMID: 1111254
- Korean J Radiol.
- 2003 Dec;4(4):243-251.
- doi: 10.3348/kjr.2003.4.4.243
Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and... -
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- The Surgical Correction for Pectus Carinatum: One Case Report
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Mok HG, Shin HS, Hong KW
- KMID: 1968899
- Korean J Thorac Cardiovasc Surg.
- 1999 May;32(5):489-493.
The pectus carinatum or anterior protrusion of the sternum is a less common than pectus excavatum. It occurs more frequently in boys than girls and associated musculoskeletal abnormalities, spinal scoliosis... -
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- Stickler's Syndrome
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Lee DE, Kim IT
- KMID: 2336575
- J Korean Ophthalmol Soc.
- 1996 Mar;37(3):559-563.
Stickler's syndrome is a progressive, hereditary disorder with ocular and systemic features. Ocular findings are vitreous veil or vitreous strand due to vitreous condensation, vitreoretinal degeneration, moderate to severe myopia,... -
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- A Case of Caudal Regression Syndrome in the Newborn of the Diabetic Mother
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Park CH, Rho DY, Kim YW, Kim TU, Joung JG
- KMID: 2272290
- Korean J Obstet Gynecol.
- 2004 Feb;47(2):405-408.
The Caudal regression syndrome is characterized by sacrococcygeal or lumbosacrococcygeal agenesis, of variable extent, most often accompanied by multiple musculoskeletal abnormalities of the pelvis and legs. It is rare fetal... -
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- Rud's Syndrome
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Herr H, Koh JK, Kim CH, Kim JU, Chung HS
- KMID: 2163983
- Ann Dermatol.
- 2000 Sep;12(3):206-210.
- doi: 10.5021/ad.2000.12.3.206
Rud's syndrome (RS), basically composed of ichthyosis, mental deficiency and hypogonadism, is a rare hereditary disease. Some varying dermatologic, neurologic, endocrinologic, ophthalmologic and musculoskeletal abnormalities have coincided with RS. No... -
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- Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings
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Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH
- KMID: 754070
- Korean J Radiol.
- 2002 Jun;3(2):113-124.
- doi: 10.3348/kjr.2002.3.2.113
The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps... -
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- Malignant hyperthermia during cesarean section: A case report
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Lee WJ, Lee JS
- KMID: 2169200
- Anesth Pain Med.
- 2011 Jan;6(1):79-84.
Malignant hyperthermia is manifestated in susceptible individuals exposed to triggering drugs, such as depolarizing muscle relaxants and inhalational anesthetics. Various musculoskeletal abnormalities, such as scoliosis, hernias and strabismus, have been... -
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- A girl with sternal malformation/vascular dysplasia association
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Lee NY, Cho HK, Kim KH, Park EA
- KMID: 2284285
- Korean J Pediatr.
- 2013 Mar;56(3):135-138.
- doi: 10.3345/kjp.2013.56.3.135
Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a... -
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- A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
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Suh YJ, Kwon HW, Kim GB, Kwon BS, Bae EJ, Noh CI, Choi JY, Kim KH, Kim YJ, Park SS
- KMID: 2225025
- Korean Circ J.
- 2012 Apr;42(4):288-291.
- doi: 10.4070/kcj.2012.42.4.288
Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ssR 1/2). The syndrome predisposes patients... -
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- A Case of Congenital Glaucoma in Associated with Nail-patella Syndrome
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Lee S, Han JC, Kee CW
- KMID: 2416273
- J Korean Ophthalmol Soc.
- 2018 Jul;59(7):687-690.
- doi: 10.3341/jkos.2018.59.7.687
PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of... -
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- Effect of the Tibia Counter Rotator Orthosis for Tibial Internal Torsion Children: A Preliminary Study
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Lee SY, Jung YT, Lee SM
- KMID: 2325477
- J Korean Acad Rehabil Med.
- 2009 Aug;33(4):470-476.
OBJECTIVE: To evaluate the therapeutic effect of the tibia counter rotator orthosis for tibial internal torsion children. METHOD: The 16 limbs included in this study were both lower extremities of 6... -
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- Quantitative Magnetic Resonance Imaging Analysis of the Cervical Spine Extensor Muscles: Intrarater and Interrater Reliability of a Novice and an Experienced Rater
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Fortin M, Dobrescu O, Jarzem P, Ouellet J, Weber MH
- KMID: 2403602
- Asian Spine J.
- 2018 Feb;12(1):94-102.
- doi: 10.4184/asj.2018.12.1.94
STUDY DESIGN: Reliability study. PURPOSE: To examine the reliability of novice and experienced raters for measurements of the size and composition of the cervical extensor muscles using a thresholding technique. OVERVIEW OF... -
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- Prevalence of Birth Defects in Korean Livebirths, 2005-2006
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Kim MA, Yee NH, Choi JS, Choi JY, Seo K
- KMID: 1778832
- J Korean Med Sci.
- 2012 Oct;27(10):1233-1240.
- doi: 10.3346/jkms.2012.27.10.1233
We investigated the livebirths prevalence and occurrence pattern of birth defects in Korea. After the survey on birth defects was done in 2,348 medical institutions around the nation, the birth... -
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- The effect of oligohydramnios on the adverse perinatal outcome and clinical characteristics in uncomplicated term pregnancies
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Ahn HY, Kim YH, Kim A, Seo MW, Kim OK, Lee G, Kim SJ, Shin JC
- KMID: 2128120
- Korean J Obstet Gynecol.
- 2007 Dec;50(12):1685-1694.
OBJECTIVE: The purpose of this study was to assess the effect of the isolated oligohydramnios on the perinatal outcome in uncomplicated term pregnancies. METHODS: We used data from Jan 2002... -
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- Radiological Analysis of Ponticulus Posticus in Koreans
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Cho YJ
- KMID: 1782966
- Yonsei Med J.
- 2009 Feb;50(1):45-49.
- doi: 10.3349/ymj.2009.50.1.45
PURPOSE: Since there has been little reporting on the prevalence or morphologic characteristics of ponticulus posticus in Asians, we retrospectively reviewed cervical 3-dimensional CT scan images and plain radiographs which... -
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- Bilateral Occurrence and Morphologic Analysis of Complete Discoid Lateral Meniscus
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Chung JY, Roh JH, Kim JH, Kim JJ, Min BH
- KMID: 2450350
- Yonsei Med J.
- 2015 May;56(3):753-759.
- doi: 10.3349/ymj.2015.56.3.753
PURPOSE: The aim of the study was to investigate and analyze bilateral incidence and morphology of complete discoid lateral meniscus (DLM) with possible relation to tears and symptoms in knee... -
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