- 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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- 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 Linear and Whorled Nevoid Hypermelanosis Associated with Congenital Hemihypertrophy
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Yang JS, Bae EY, Park YM, Kim HO, Kim CW
- KMID: 2086762
- Korean J Dermatol.
- 2003 Nov;41(11):1564-1567.
Linear and whorled nevoid hypermelanosis(LWNH) is a congenital disorder characterized by hyperpigmented macules in a linear and whorled pattern along Blaschko's lines, and develops a few weeks after birth. Skin... -
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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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- A Case of Isolated Congenital Double-Orifice Mitral Valve
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Lee DI, Chung B, Kim Y, Rim SJ, Ha JW, Chung N
- KMID: 2228902
- Korean Circ J.
- 1998 Jun;28(6):1007-1010.
- doi: 10.4070/kcj.1998.28.6.1007
Double-orifice mitral valve is a relatively rare congenital abnormality, usually discovered at autopsy or surgery. In most cases, the double-orifice mitral valve causes no hemodynamic effects, sometimes it is regurgitant,... -
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- Radiologic Features of a Tailgut Cyst in a Neonate: A Case Report
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Kim KR, Park WK
- KMID: 2209123
- J Korean Radiol Soc.
- 2008 Feb;58(2):177-180.
- doi: 10.3348/jkrs.2008.58.2.177
A tailgut cyst is a rare congenital abnormality located in the retrorectal space and is usually manifested during childhood or adulthood. We report the MR, CT and ultrasound findings of... -
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- Congenital lymphangiomatosis of the right lower limb
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We JS, Shin JE, Jang DG, Choi SK, Park IY, Shin JC
- KMID: 2273946
- Korean J Obstet Gynecol.
- 2010 Jul;53(7):647-651.
- doi: 10.5468/kjog.2010.53.7.647
Lymphangiomatosis is a condition of lymphatic tissue malformation with multiple or diffuse involvement of soft tissues, visceral organs. Congenital abnormalities of the lymphatic system are very rare, and reports of... -
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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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- A Case of Linear and Whorled Nevoid Hypermelanosis
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Lim TW, Lee MH
- KMID: 1595216
- Korean J Dermatol.
- 2001 Apr;39(4):486-488.
Linear and whorled nevoid hypermelanosis(LWNH) is a congenital disorder which was first described by Kalter in 1988 and is characterized by asymmetrically distributed linear and whorled hyperpigmentation following Blaschko's lines.... -
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- Sprengel Deformity with Bilateral Huge Omovertebra
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Yoon GW, Chung SH
- KMID: 2336298
- J Korean Orthop Assoc.
- 2013 Aug;48(4):319-323.
Sprengel's deformity is characterized by the congenital migration of the scapula superiorly in relation to the thoracic cage. Other congenital anomalies, such as Klippel-Feil syndrome, may occur in combination with... -
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- Horseshoe Adrenal Gland in a Newborn with Right Isomerism
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Yang DH, Goo HW, Yoon CH
- KMID: 1900137
- J Korean Radiol Soc.
- 2003 Jul;49(1):63-65.
- doi: 10.3348/jkrs.2003.49.1.63
Horseshoe adrenal gland is a rare congenital abnormality associated with multiple congenital anomalies that may involve the cardiovascular, central nervous, and genitourinary systems. In this report, we describe the sonographic... -
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- A Case of Edward Syndrome Diagnosed in Early Pregnancy
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Jeon BS, So YH, Park SG, Kim MJ, Lee JH, Lee CW
- KMID: 2075736
- Korean J Obstet Gynecol.
- 1999 Apr;42(4):915-919.
Edward syndrome, or Trisomy 18, is the second most common autosomal aberration associated with multiple congenital abnormalities. The hallmark of trisomy 18 is polyhydramnios with intrauterine growth retardation and congenital... -
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- Anesthetic management in a pediatric patient with Poland syndrome: A case report
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Jeong IH, Choi WJ, Yi Y, Mun SH, Kim HS
- KMID: 2239800
- Korean J Anesthesiol.
- 2009 Dec;57(6):773-775.
- doi: 10.4097/kjae.2009.57.6.773
Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral upper extremity abnormalities, usually on the right side. It can be combined with other anomalies... -
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- A Tethered Cord with Hemivertebra: A Case Report and Review of Literature
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Asil K, Yaldiz M, Yaldiz C, Ozkal B
- KMID: 2288348
- Korean J Spine.
- 2015 Sep;12(3):190-192.
- doi: 10.14245/kjs.2015.12.3.190
Spinal dysraphisms are defined as open and closed dysraphisms. A hemivertebra is a congenital condition seen in 61% of patients with congenital anomalies. The first report of the excision of... -
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- Bipartite Medial Cuneiform Combined with Accessory Navicular: A Case Report
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Lee TH, Nam IH, Moon GH, Lee YH, Ahn GY, Lee YH
- KMID: 1958703
- J Korean Foot Ankle Soc.
- 2015 Mar;19(1):32-34.
- doi: 10.14193/jkfas.2015.19.1.32
Accessory navicular is a congenital anomaly appearing in the secondary ossification center on the tuberosity of the navicular that may cause flatfoot. Bipartite medial cuneiform is another rare congenital anomaly... -
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- Congenital Hyperextension of the Knee: Report of a Case
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Ahn JH, You MC, Lee SH, Kim KC, Goo JH
- KMID: 2461284
- J Korean Orthop Assoc.
- 1976 Sep;11(3):414-418.
- doi: 10.4055/jkoa.1976.11.3.414
Congenital Hyperextension of the Knee is a extremly rare deformity, in which the tibia is displaced anteriorly in relation to the femur. It is usually classified into three subtypes according... -
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- Carpal Tunnel Syndrome in Congenital Radial Dysplasia
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Kim JY, Gong GM, Gwak HC, Park DH, Lee HJ
- KMID: 2194162
- J Korean Soc Surg Hand.
- 2013 Jun;18(2):81-84.
- doi: 10.12790/jkssh.2013.18.2.81
Congenital radial dysplasia is a rare disease with the defect or hypoplasia of radial side of forearm and hand. Congenital radial dysplasia is often accompanied by deformities of other parts.... -
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- Congenital Defect of the Posterior Arch of Cervical Spine : Report of Three Cases and Review of the Current Literature
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Song KC, Cho KS, Lee SB
- KMID: 2066824
- J Korean Neurosurg Soc.
- 2010 Sep;48(3):294-297.
- doi: 10.3340/jkns.2010.48.3.294
Abnormalities of the posterior arch, including congenitally absent cervical pedicle and cervical spondylolysis, are rare entities that are usually found incidentally on neck radiographs. It is important to recognize these... -
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- Surgical correction of congenital ear cartilage deformity using inverted mattress suture
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Choi BW, Suh IS, Ha JW
- KMID: 2036153
- J Korean Soc Plast Reconstr Surg.
- 1993 Jan;20(1):73-82.
No abstract available. -
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- Congenital Coxa Vara: Report of one case
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Kang CS, Pyun YS, Lee CK, Kim JH
- KMID: 2460355
- J Korean Orthop Assoc.
- 1978 Sep;13(3):457-461.
- doi: 10.4055/jkoa.1978.13.3.457
Congenital coxa vara is a rare congenital deformity seen in infancy and childhood and usually not discovered until walking is begun and characterized by a progressive decrease in the angle... -
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