- Legg-Perthes Disease Associated with Cornelia de Lange Syndrome: A Case Report
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Lee DY, Choi IH, Moon HR, Yoon KS, Lee MC, Ahn JH
- KMID: 2445501
- J Korean Orthop Assoc.
- 1990 Apr;25(2):591-596.
- doi: 10.4055/jkoa.1990.25.2.591
The Cornelia de Lange syndrome is characterized by severe growth and mental retardation; typical facies; low-pitched, weak, growling cry, and various bone abnormalities, as was first described by Cornelia de... -
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- A Case of Cornelia de Lange Syndrome
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Han J, Bae ST, Byun SO, Oh JS
- KMID: 1682552
- J Korean Pediatr Soc.
- 1988 Feb;31(2):282-287.
No abstract available. -
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- Two cases of Cornelia de Lange syndrome
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Yoo YJ, Na KC, Yoo HS, Park SK, Park YB
- KMID: 1691295
- J Korean Pediatr Soc.
- 1992 May;35(5):684-690.
No abstract available. -
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- A Case of Cornelia de Lange Syndrome
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Oh HK, Yoo SJ, Kim MJ, Lee MN
- KMID: 1683174
- J Korean Pediatr Soc.
- 1990 Jan;33(1):94-99.
No abstract available. -
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- Dental Findings in Cornelia De Lange Syndrome
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Toker AS, Ay S, Yeler H, Sezgin I
- KMID: 2396075
- Yonsei Med J.
- 2009 Apr;50(2):289-292.
Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations.... -
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- Cornelia de Lange Syndrome
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Yoon HJ, Kim AL, Yong WK, Ahn SI
- KMID: 1667944
- J Korean Pediatr Soc.
- 1980 Jun;23(6):479-485.
The Cornelia de Lange syndrome is characterized by severe growth and mental retardations and a cluster of minor malformations, the facial appearance being most characteristic. In the present paper, we... -
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- A Case of Cornelia de Lange syndrome
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Ahn BH, Choi SN, Kim YW, Kim KB
- KMID: 1683220
- J Korean Pediatr Soc.
- 1990 Feb;33(2):234-240.
No abstract available. -
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- Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome
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Park SJ, Choi EK, Park S, Bae K, Lee D
- KMID: 2433742
- Yeungnam Univ J Med.
- 2018 Dec;35(2):219-221.
- doi: 10.12701/yujm.2018.35.2.219
Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway. The GlideScope... -
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- Anesthesiologic considerations in a pediatric patient with cornelia de lange syndrome: A case report
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Ro J, Kim EJ, Lee JH, Min BW, Lee SG, Ban JS
- KMID: 2243010
- Korean J Anesthesiol.
- 2008 Nov;55(5):639-643.
- doi: 10.4097/kjae.2008.55.5.639
Cornelia de Lange syndrome (CdLS) is a relatively uncommon, multiple malformation syndrome involving neurodevelopmental, craniofacial, cardiac, musculoskeletal and gastrointestinal systems. Anesthetic management of a patient with CdLS may pose a... -
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- A Case of Cornelia de Lange Syndrome with Imperforate Anus
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Lee SH, Jang JW, Kim IS, Kim WD, Lee SG
- KMID: 1750727
- J Korean Soc Neonatol.
- 2007 Nov;14(2):253-257.
Cornelia de Lange syndrome is characterized by severe growth and mental retardation, characteristic face, and a low-pitched, weak, growling cry, which was first described by Cornelia de Lange in 1933.... -
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- A Korean Case of Cornelia de Lange Syndrome
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Kim IT, Park JW, Choi WC
- KMID: 754416
- Korean J Ophthalmol.
- 2005 Jun;19(2):153-155.
- doi: 10.3341/kjo.2005.19.2.153
PURPOSE: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS: We... -
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- Familial Brachmann-de Lange Syndrome with Dorsal Hypertrichosis
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Yoon HS, Lee SH, Eun HC, Kwon OS
- KMID: 2249386
- Korean J Dermatol.
- 2005 Oct;43(10):1413-1415.
Brachmann-de Lange syndrome (BDLS) is a dysmorphic syndrome, including growth deficiency, characteristic facial features, mental retardation, hypertrichosis, and varied malformations of the musculoskeletal system and other organs. Although some cases... -
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- Syndactyly of Feet Associated with Cornelia de Lange Syndrome
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Roh SG, Lee NH, Yang KM
- KMID: 2322371
- J Korean Soc Plast Reconstr Surg.
- 2004 Jul;31(4):567-571.
Cornelia de Lange syndrome was first described by Brachmann in 1916 and later reported by Cornelia de Lange in 1933. It is a rare malformation and retardation syndrome of unknown... -
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- Three cases of Cornelia de Lange syndrome
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Seong SM, Lee JS, Lee DB, Whang KT
- KMID: 1663482
- J Korean Pediatr Soc.
- 1978 Mar;21(3):232-238.
We have experienced 3 cases of Cornelia de Lange syndrome in Korean female infants. They showed typical clinical features of a microbrachycephaly, hirsutism and characteristic face with low forehead bushy... -
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- The general anesthesia experience of cornelia de lange syndrome patient: A case report
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Cho SY, Jeon WJ, Cho YH, Shim JH, Yeom JH, Shin WJ, Kim KH
- KMID: 1782559
- Korean J Anesthesiol.
- 2008 Dec;55(6):769-773.
- doi: 10.4097/kjae.2008.55.6.769
Cornelia de Lange syndrome (Amsterdam dwarfism) is a congenital disease characterized by mental retardation associated with multiple malformation.A genetic etiology has been proposed, with suggestions of autosomal dominant and recessive... -
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- Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome
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Kim WJ
- KMID: 2449329
- Yeungnam Univ J Med.
- 2019 May;36(2):152-154.
- doi: 10.12701/yujm.2019.00066
Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched... -
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- Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
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Park KH, Lee ST, Ki CS, Byun SY
- KMID: 1792912
- J Korean Med Sci.
- 2010 Dec;25(12):1821-1823.
- doi: 10.3346/jkms.2010.25.12.1821
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on... -
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- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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Hong S, Lee CG
- KMID: 2435969
- J Genet Med.
- 2018 Jun;15(1):24-27.
- doi: 10.5734/JGM.2018.15.1.24
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused... -
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- Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
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Jang MA, Lee CW, Kim JK, Ki CS
- KMID: 2363269
- Ann Lab Med.
- 2015 Nov;35(6):639-642.
- doi: 10.3343/alm.2015.35.6.639
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family... -
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- Relationship of the Area Measurement of the Large Endolymphatic Duct and Sac Syndrome as well as the Clinical Symptoms with CT and MR Imaging Results
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Park JS, Hong HS, Lee JS, Kim DH, Lee HK, Yi BH, Cha JG, Park SJ, Kim SC
- KMID: 1479047
- J Korean Radiol Soc.
- 2008 Aug;59(2):75-81.
- doi: 10.3348/jkrs.2008.59.2.75
PURPOSE: To evaluate the CT and MRI findings of the large endolymphatic duct or sac syndrome (LEDS) and its associated anomalies, with clinical features. MATERIALS AND METHODS: We retrospectively reviewed the... -
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