- Prenatal ultrasonography of craniofacial abnormalities
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Mak AS, Leung KY
- KMID: 2433288
- Ultrasonography.
- 2019 Jan;38(1):13-24.
- doi: 10.14366/usg.18031
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the... -
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- A Gastroschisis with Antenatal Eviceration of Entire Liver, Intestine and Stomach
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Lee SH, Park KS
- KMID: 1107462
- Yonsei Med J.
- 1969 Dec;10(2):196-197.
- doi: 10.3349/ymj.1969.10.2.196
This is a 1.5Kg female baby delivered in the department of Obstetrics and Gynecology of Severance Hospital with normal spontaneous vaginal delivery at 32 weeks gestation period. In delivery room... -
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- 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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- Clinical characteristics of CHARGE syndrome
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Ahn BS, Oh SY
- KMID: 1043970
- Korean J Ophthalmol.
- 1998 Dec;12(2):130-134.
- doi: 10.3341/kjo.1998.12.2.130
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development... -
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- A Case of Multiple Congenital Abnormalities Associated with Ring Chromosome 13
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Lee YH, Choi DW, Coe CJ, Kim KY
- KMID: 1682576
- J Korean Pediatr Soc.
- 1988 Apr;31(4):506-510.
No abstract available. -
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- Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye
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Cho D, Choi D, Nam W
- KMID: 1098640
- Korean J Ophthalmol.
- 2011 Oct;25(5):352-354.
- doi: 10.3341/kjo.2011.25.5.352
An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior... -
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- Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome
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Park SW, Kim HG, Heo H, Park YG
- KMID: 1115657
- Korean J Ophthalmol.
- 2009 Mar;23(1):62-64.
- doi: 10.3341/kjo.2009.23.1.62
Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in... -
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- Lobar agenesis of the left upper lung: a case report
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Joo CU, Song GY, Kim JS
- KMID: 1421505
- J Korean Med Sci.
- 1990 Dec;5(4):233-235.
- doi: 10.3346/jkms.1990.5.4.233
Lung agensis is a rare developmental anomaly. It can range from total bronchial and parechymal agensis to mild pulmonary parenchymal hypoplasia of one or both lungs. A case of lobar... -
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- LONG TERM FOLLOW-UP OF MULTIPLE ODONTOGENIC KERATOCYSTS ASSOCIATED WITH BASAL CELL NEVUS SYNDROME: A CASE REPORT
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Lee EY, Kim KW
- KMID: 2005103
- J Korean Assoc Maxillofac Plast Reconstr Surg.
- 2010 Jan;32(1):81-85.
Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness.... -
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- A Case of Trisomy 9 Mosaicism Syndrome
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Na YJ, Lee JH, Park MS
- KMID: 2355576
- Perinatology.
- 2016 Sep;27(3):174-177.
- doi: 10.14734/PN.2016.27.3.174
Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can... -
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- Unusual association of pulmonary artery sling with right aortic arch and aberrant left subclavian artery
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Jeong DH, Han HS, Hahn YS, Lee SJ
- KMID: 1731248
- J Korean Med Sci.
- 2000 Feb;15(1):119-121.
- doi: 10.3346/jkms.2000.15.1.119
We present an unusual case of vascular sling, tracheal stenosis by complete cartilaginous ring, and aberrant left subclavian artery with right aortic arch that underwent successful surgical repair for the... -
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- Congenital aglossia with situs inversus totalis--a case report
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Jang GY, Lee KC, Choung JT, Son CS, Tockgo YC
- KMID: 645030
- J Korean Med Sci.
- 1997 Feb;12(1):55-57.
- doi: 10.3346/jkms.1997.12.1.55
Hypoglassia or aglossia is an uncommon anomaly, either of which may occur as an isolated finding or in association with other deformations, especially limb anomalies. Their genetic background is... -
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- Successful Vaginal Delivery of a Pregnant Woman with Cantrell's Pentalogy
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Moon KY, Choe SA, Park CW, Park JS, Jun JK, Syn HC
- KMID: 1714052
- J Korean Med Sci.
- 2010 Aug;25(8):1241-1243.
- doi: 10.3346/jkms.2010.25.8.1241
Cantrell's Pentalogy is a rare condition that consists of defects involving the abdominal wall, lower sternum, anterior diaphragm, pericardium, and heart. In the literature to date, pregnant women with Cantrell's... -
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- Half-and-Half Palatoplasty
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Han HH, Kang IS, Rhie JW
- KMID: 2134171
- Arch Craniofac Surg.
- 2014 Aug;15(2):105-108.
- doi: 10.7181/acfs.2014.15.2.105
A 14-month-old child was diagnosed with a Veau Class II cleft palate. Von Langenbeck palatoplasty was performed for the right palate, and V-Y pushback palatoplasty was performed for the left... -
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- Cystic Dysplasia of the Testis Associated with Ipsilateral Hypoplastic Type of Renal Dysplasia and Ureterovesical Junction Obstruction
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Yang DH, Chae HS, Jung SM, Lee SH, Lee YW, Lee SK, Choi YH
- KMID: 2293418
- Korean J Urol.
- 2004 Jul;45(7):739-741.
Cystic dysplasia of the testis is a rare benign congenital lesion of the rete testis that is often associated with renal and ureteral abnormalities. Herein, a case of cystic dysplasia... -
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- The Management of Cardiovascular Abnormalities in Patient With LEOPARD Syndrome
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Lee KJ, Choi H, Choi WH, Kwon SU, Doh JH, Namgung J, Lee SY, Lee WR
- KMID: 2225178
- Korean Circ J.
- 2010 Jul;40(7):339-342.
- doi: 10.4070/kcj.2010.40.7.339
LEOPARD syndrome (LS) is a rare hereditary disorder in Asian countries. This syndrome consists of multiple systemic abnormalities. In particular, characteristic cardiovascular effects in LS may include variable clinical manifestations... -
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- The Reaction of the Acetabular Articular Cartilage to Bipolar Hemiarthroplasty
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Kim YH
- KMID: 693036
- Yonsei Med J.
- 1986 Sep;27(3):234-238.
- doi: 10.3349/ymj.1986.27.3.234
An evaluation of the acetabular cartilage was performed grossly and histologically in a patient who had a bipolar hemiarthroploasty, which had served satisfactorily for 2 years until the femoral prosthetic... -
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- Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome
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Choi BG, Kim YH
- KMID: 2462489
- Arch Craniofac Surg.
- 2019 Oct;20(5):329-331.
- doi: 10.7181/acfs.2019.00395
Telecanthus is a common symptom accompanied by Waardenburg syndrome, a rare genetic disorder. The optimal surgery for telecanthus correction is still debated. A 28-year-old patient with Waardenburg syndrome underwent transnasal... -
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- A Case of Aniridia
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Chung SJ
- KMID: 1658331
- J Korean Ophthalmol Soc.
- 1971 Sep;12(3):119-120.
The author experienced a case of Aniridia in both eyes with increased intra-ouclar pressure. She was 3 month old and had no other congenital abnormalities and significant family history. Intra-ouclar... -
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- Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways
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Aktekin M, Oz O, Saygili MR, Kurtoglu Z
- KMID: 1734059
- Yonsei Med J.
- 2005 Apr;46(2):296-299.
- doi: 10.3349/ymj.2005.46.2.296
This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm,... -
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