- A case of CHARGE syndrome diagnosed after delivery: A case report
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Cho HC, Kwack MJ, Park MC
- KMID: 1993047
- Korean J Obstet Gynecol.
- 2007 Feb;50(2):361-365.
The acronym CHARGE (Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities) was coined by Pagon et al. in 1981. The prevalence of CHARGE syndrome... -
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- A Case of CHARGE Syndrome
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Jung YJ, Kim YW, Kim HK, Yoon SW
- KMID: 2274713
- Korean J Otolaryngol-Head Neck Surg.
- 2000 May;43(5):549-551.
CHARGE syndroine, first described by Pagon, was named for its six dominant clinical features. They are coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development... -
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- Successful intubation using video laryngoscope in a child with CHARGE syndrome: A case report
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Kim J, Hong JI, Chae KL, Yoon KS, Park SY, Lee SC, Lee JH, Chung CJ, Choi SR
- KMID: 2434197
- Anesth Pain Med.
- 2019 Jan;14(1):40-43.
- doi: 10.17085/apm.2019.14.1.40
CHARGE syndrome is a rare genetic disorder with CHD7 gene mutation. CHARGE is an acronym for coloboma (C), heart disease (H), atresia of choanae (A), retardation of growth (R), genitourinary... -
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- A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
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Son YY, Lee B, Suh CR, Nam HK, Lee JH, Hong YS, Lee JW
- KMID: 2055591
- J Genet Med.
- 2015 Jun;12(1):57-60.
- doi: 10.5734/JGM.2015.12.1.57
CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in... -
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- Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
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Kim Y, Lee HS, Yu JS, Ahn K, Ki CS, Kim J
- KMID: 1875960
- Korean J Pediatr.
- 2014 Jan;57(1):46-49.
- doi: 10.3345/kjp.2014.57.1.46
CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of... -
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- Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development in CHARGE Syndrome with CHD7 Mutation
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Lee SH, Lee YW, Shin YL
- KMID: 1819682
- J Korean Soc Pediatr Endocrinol.
- 2009 Jun;14(1):68-72.
CHARGE syndrome is a congenital malformation disorder that includes Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities. Recently hypogonadotropic hypogonadism and abnormal... -
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- A Case of Bilateral Choanal Atresia without Stenting
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Lee DG, Kim SM, We CE, Kim YW
- KMID: 2359368
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2016 Nov;59(11):787-791.
- doi: 10.3342/kjorl-hns.2016.59.11.787
Bilateral choanal atresia is a rare disorder characterized by bilateral obstruction of the posterior end of the nasal cavity. It can be present in isolation or associated with multiple disorders... -
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- Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
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Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS
- KMID: 2363163
- Ann Lab Med.
- 2015 Jan;35(1):141-145.
- doi: 10.3343/alm.2015.35.1.141
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear... -
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- Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
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Brajadenta GS, Utari A, Patri S, Bilan F, Faradz SM, Kitzis A, Thoreau V
- KMID: 2450977
- Ann Lab Med.
- 2019 Sep;39(5):503-506.
- doi: 10.3343/alm.2019.39.5.503
No abstract available. -
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- Analysis of respiratory problems in CHARGE syndrome: a single center study
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Song S, Park MR, Kim J, Choi YA, Song J, Huh J, Kang IS, Chung MK, Jeong HS, Son YI, Ahn K
- KMID: 2168574
- Allergy Asthma Respir Dis.
- 2014 Mar;2(1):70-74.
- doi: 10.4168/aard.2014.2.1.70
PURPOSE: CHARGE syndrome consists of multiple malformation including coloboma, heart defect, choanal atresia, growth or developmental retardation, genital anomalies, and ear anomalies. The aim of this study was to evaluate... -
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- CT and MR Imagings of Semicircular Canal Aplasia
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Shin CH, Hong HS, Yi BH, Cha JG, Park SJ, Kim DH, Lee HK, Kim SC
- KMID: 1471213
- J Korean Soc Radiol.
- 2009 Jul;61(1):9-15.
- doi: 10.3348/jksr.2009.61.1.9
PURPOSE: To evaluate the clinical, CT and MR imaging findings of semicircular canal (SCC) aplasia and to evaluate if a correlation exists between these findings and the associated anomalies or... -
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- A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
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Antoniou M, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, van der Sloot A, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud , Hauschild
- KMID: 2447376
- Ann Pediatr Endocrinol Metab.
- 2019 Mar;24(1):49-54.
- doi: 10.6065/apem.2019.24.1.49
Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth... -
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- Choanal Atresia: Surgery by Puncture, Dilation and Stenting
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Sinha V, Sinha S, Gupta D, More Y, Prajapati , Bhat V, Kedia BK, Ninama M, Shah S
- KMID: 2131887
- J Rhinol.
- 2006 Nov;13(2):124-127.
BACKGROUND AND OBJECTIVES: The bilateral choanal atresia is a medical emergency for which surgery is the only and definite treatment. We performed an atretic bone perforation using Hagers dilators. The... -
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