- 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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- 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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- Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis
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Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I
- KMID: 1422020
- J Korean Med Sci.
- 1993 Dec;8(6):471-475.
- doi: 10.3346/jkms.1993.8.6.471
Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated... -
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- Three Cases of Allopurinol Hypersensitivity Syndrome
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Bang HD, Chung JH, Cho KH, Youn JI
- KMID: 2115947
- Korean J Dermatol.
- 1995 Feb;33(1):130-134.
The allopurinol hypersensicivity syndrome is a rare, but life thereaning immunologic reaction of allopurinol therapy, characterized by multiple abnormalities such as fever, rash, decreased renal function, hepatocellular injury, leukocytosis, and... -
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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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- 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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- Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report
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Park SY, Lee WR
- KMID: 2184459
- J Genet Med.
- 2008 Dec;5(2):136-138.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and... -
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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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- 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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- A Case of Schinzel-Giedion Syndrome
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Park KH, Hwang SH, Byun SY
- KMID: 2052468
- Neonatal Med.
- 2013 Feb;20(1):155-158.
- doi: 10.5385/nm.2013.20.1.155
Schinzel-Giedion syndrome (SGS) is a rare malformation syndrome characterized by severe midface retraction, multiple congenital malformations including hydronephrosis, congenital heart defect, skeletal anomalies and hypertrichosis, and a higher prevalence of... -
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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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- An autopsy case of Adams-Oliver syndrome
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Jun SY, Khang SK, Park SH
- KMID: 1730652
- J Korean Med Sci.
- 2000 Aug;15(4):482-484.
- doi: 10.3346/jkms.2000.15.4.482
We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was... -
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- Brain MRI in children with delayed development: emphasis on white matter maturation
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Sung MS, Kim OH, Moon JL, Shinn KS, Bahk YW
- KMID: 2416566
- J Korean Radiol Soc.
- 1992 Jun;28(3):457-462.
To analyzed the progression of white matter maturation and white matter pathology, MR imaging of the brain was obtained in 38 children with delayed development. Children with developmental delay showed... -
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- A Case of Jarcho-Levin Syndrome with Fusion of Both Kidneys in a Newborn Infant
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Kim JY, Hwang SJ, Lee SM, Oh JW, Yum MK, Kim CR
- KMID: 2099130
- J Korean Soc Neonatol.
- 2008 May;15(1):84-88.
The Jarcho-Levin syndrome is a rare genetic disorder characterized by a short neck, short trunk, and a constricted thorax, and is due to multiple vertebral and rib defects. The small... -
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- A Case of Anticonvulsant Hypersensitivity Syndrome Induced by Carbamazepine
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Park SY, Kim JY, Kim CW, Kim BC, Lee KS
- KMID: 2086824
- Korean J Dermatol.
- 2004 Apr;42(4):523-526.
Anticonvulsant hypersensitivity syndrome is a life threatening immunologic reaction of anticonvulsants therapy such as phenytoin, phenobarbital, or carbamazepine, characterized by multiple abnormalities such as fever, rash, lymphadenopathy, acute hepatocellular injury,... -
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- A Case of Goltz Syndrome
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Bae YI, Yun SJ, Lee JB, Kim SJ, Won YH, Lee SC
- KMID: 2087924
- Korean J Dermatol.
- 2008 Jan;46(1):122-125.
Goltz syndrome or focal dermal hypoplasia, is a rare genodermatosis, characterized by multiple abnormalities of mesodemal and ectodermal organs. Cutaneous manifestations include linear or cribriform atrophied patches with telangiectasia following... -
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- A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
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Choi WI, Kim JH, Yoo HW, Oh SH
- KMID: 1455878
- Korean J Pediatr.
- 2010 Dec;53(12):1018-1021.
- doi: 10.3345/kjp.2010.53.12.1018
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred... -
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- X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
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Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW
- KMID: 1781893
- J Korean Med Sci.
- 2006 Oct;21(5):790-793.
- doi: 10.3346/jkms.2006.21.5.790
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations... -
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- Herlyn-Werner-Wunderlich Syndrome with Unilateral Hemivaginal Obstruction, Ipsilateral Renal Agenesis, and Contralateral Renal Thin GBM Disease: A Case Report with Radiological Follow Up
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Park NH, Park HJ, Park CS, Park SI
- KMID: 1460074
- J Korean Soc Radiol.
- 2010 Apr;62(4):383-388.
- doi: 10.3348/jksr.2010.62.4.383
Herlyn-Werner-Wunderlich syndrome is a rare Mullerian ductal anomaly that is characterized by the presence of a hemivaginal septum, a didelphic uterus and ipsilateral renal agenesis. It is generally difficult to... -
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- Tracheobronchial Branching Anomalies
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Hong MJ, Kim YT, Jou SS, Park AY
- KMID: 2419805
- J Korean Soc Radiol.
- 2010 Aug;63(2):149-159.
There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies... -
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