- Prenatally Detected Congenital Perineal Mass Using 3D Ultrasound which was Diagnosed as Lipoblastoma Combined with Anorectal Malformation: Case Report
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Ahn KH, Boo YJ, Seol HJ, Park HT, Hong SC, Oh MJ, Kim T, Kim HJ, Kim YT, Kim SH, Lee KW
- KMID: 1792965
- J Korean Med Sci.
- 2010 Jul;25(7):1093-1096.
- doi: 10.3346/jkms.2010.25.7.1093
We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at... -
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- Congenital Aniridia: Long-term Clinical Course, Visual Outcome, and Prognostic Factors
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Chang JW, Kim JH, Kim SJ, Yu YS
- KMID: 2345825
- Korean J Ophthalmol.
- 2014 Dec;28(6):479-485.
- doi: 10.3341/kjo.2014.28.6.479
PURPOSE: To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up. METHODS: The medical records of 120 eyes from 60 patients with... -
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- Enteric duplications in children: an analysis of 6 cases
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Choi SO, Park WH, Kim SP
- KMID: 1422022
- J Korean Med Sci.
- 1993 Dec;8(6):482-487.
- doi: 10.3346/jkms.1993.8.6.482
This is an analysis of 6 patients with enteric duplications seen over an 8 year period at the Department of Pediatric Surgery, Dongsan Medical Center. They were all males but... -
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- The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
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Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH
- KMID: 1713200
- J Korean Med Sci.
- 2007 Apr;22(2):352-356.
- doi: 10.3346/jkms.2007.22.2.352
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features.... -
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- Urachal Anomalies in Children: A Single Center Experience
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Choi YJ, Kim JM, Ahn SY, Oh JT, Han SW, Lee JS
- KMID: 1777165
- Yonsei Med J.
- 2006 Dec;47(6):782-786.
- doi: 10.3349/ymj.2006.47.6.782
The objective of this study is to define optimal diagnosis and treatment strategies for patients with urachal anomalies in the pediatric age group. The medical records of 21 children who... -
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- Role of multicolor fluorescence in situ hybridization (FISH) in simultaneous detection of probe sets for chromosome 18, X and Y in uncultured amniotic fluid cells
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Kim JI, Rhee JH
- KMID: 1731319
- J Korean Med Sci.
- 1999 Aug;14(4):438-442.
- doi: 10.3346/jkms.1999.14.4.438
Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The... -
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- A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW
- KMID: 1791956
- Ann Lab Med.
- 2014 Sep;34(5):390-394.
- doi: 10.3343/alm.2014.34.5.390
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11... -
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- Detection of fetal erythroid cells from maternal blood using fluorescence in situ hybridization and liquid culture
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Han JY, Kim KH, Park JI, Kim IH, Je GH
- KMID: 648248
- J Korean Med Sci.
- 2001 Apr;16(2):145-149.
- doi: 10.3346/jkms.2001.16.2.145
Fetal nucleated erythrocytes circulating in maternal blood are a potential source of fetal DNA for noninvasive prenatal genetic diagnosis. However, the estimated ratio of fetal to maternal cells is extremely... -
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- A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
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Yang HJ, Lee YK, Joo CK, Moon JI, Mok JW, Park MH
- KMID: 2363769
- Korean J Ophthalmol.
- 2015 Aug;29(4):249-255.
- doi: 10.3341/kjo.2015.29.4.249
PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family... -
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- Alpha-Fetoprotein Values in Maternal Serum and Amniotic Fluid for Prenatal Screening of Genetic Disorders
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Kim CK, Yang YH
- KMID: 693089
- Yonsei Med J.
- 1987 Sep;28(3):218-227.
- doi: 10.3349/ymj.1987.28.3.218
Prenatal alpha-fetoprotein screening may serve as an index of suspicion of many congenital anomalies of the fetus including neural tube defect and aneuploid fetus. This study was undertaken to determine... -
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