CHARGE syndrome: A review

Peter Hsu; Alan Ma; Meredith Wilson; George Williams; John Curotta; Craig F Munns; Sam Mehr

doi:10.1111/jpc.12497

journal article Feb 19, 2014

CHARGE syndrome: A review

Peter Hsu Alan Ma Meredith Wilson

George Williams John Curotta Craig F Munns Sam Mehr

Journal of Paediatrics and Child Health Vol. 50 No. 7 pp. 504-511 · Wiley

View at Publisher Save 10.1111/jpc.12497

Abstract

AbstractCHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.

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References

55

[1]

Williams G "The epidemiology and clinical features of the CHARGE association in Australian children 2000–2002" Port. Pediatr. Surveill. Unit Bull. (2004)

[2]

10.1016/s0022-3476(79)80513-2

[3]

10.3928/0191-3913-19790301-10

[4]

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Roberta A. Pagon, John M. Graham, Jonathan Zonana et al.

The Journal of Pediatrics 10.1016/s0022-3476(81)80454-4

[5]

10.1038/ng1407

[6]

10.1177/000992289803700302

[7]

10.1002/ajmg.a.30559

[8]

Lalani SR (1993)

[9]

10.1002/1096-8628(20010301)99:2<124::aid-ajmg1114>3.0.co;2-9

[10]

10.1136/jmg.2010.087106

[11]

10.1002/humu.22086

[12]

10.1136/jmg.2005.032946

[13]

10.1002/ajmg.a.30562

[14]

10.1038/sj.ejhg.5201778

[15]

10.1136/jmg.2005.036061

[16]

10.1002/ajmg.a.31921

[17]

10.1136/bjo.74.7.421

[18]

10.1016/j.jaapos.2008.02.009

[19]

10.1002/ajmg.a.34400

[20]

10.1186/1750-1172-1-34

[21]

10.1007/bf00796983

[22]

10.1161/circgenetics.113.000054

[23]

10.1016/0165-5876(87)90107-8

[24]

10.1001/archotol.1993.01880130051006

[25]

10.1002/pd.1938

[26]

10.1111/j.1399-0004.2012.01884.x

[27]

CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development

G. Pinto, V. Abadie, R. Mesnage et al.

The Journal of Clinical Endocrinology & Metabo... 10.1210/jc.2004-2474

[28]

10.1002/ajmg.a.30546

[29]

Hartshorne TS. (2012)

[30]

10.1002/1096-8628(20000918)94:3<228::aid-ajmg8>3.0.co;2-h

[31]

10.1210/jc.2007-1419

[32]

10.1002/lary.23682

[33]

10.1016/s0165-5876(96)01489-9

[34]

Morimoto AK "Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings" AJNR Am. J. Neuroradiol. (2006)

[35]

10.1007/s00455-007-9111-6

[36]

10.1016/j.ijporl.2005.03.030

[37]

10.1542/peds.2004-1970

[38]

10.3174/ajnr.a1099

[39]

Hartshorne TS "Challenging behaviour in CHARGE syndrome" Ment. Health Aspects Dev. Disabil. (2004)

[40]

10.1002/ajmg.a.30544

[41]

10.1002/ajmg.a.30543

[42]

10.1002/ajmg.a.30541

[43]

10.1111/j.1469-8749.2008.03146.x

[44]

10.1016/j.ijporl.2012.02.061

[45]

10.1002/ajmg.a.10917

[46]

10.1136/adc.80.2.167

[47]

Corsten‐Janssen N "More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated" Mol. Syndromol. (2013) 10.1159/000351127

[48]

10.1016/j.ejmg.2007.05.002

[49]

10.1542/peds.2008-3400

[50]

10.1111/j.1365-2249.2008.03681.x

Showing 50 of 55 references

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Metrics

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Citations

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References

Details

Published: Feb 19, 2014
Vol/Issue: 50(7)
Pages: 504-511
License: View

Authors

P

Peter Hsu

Department of Allergy and Immunology The Children's Hospital at Westmead Sydney New South Wales Australia

A

Alan Ma

Department of Clinical Genetics The Children's Hospital at Westmead Sydney New South Wales Australia

M

Meredith Wilson

Department of Clinical Genetics The Children's Hospital at Westmead Sydney New South Wales Australia

G

George Williams

Department of Paediatrics St George and Hurstville Private Hospitals Sydney New South Wales Australia

J

John Curotta

Department of Ear Nose and Throat Surgery The Children's Hospital at Westmead Sydney New South Wales Australia

C

Craig F Munns

Institute of Endocrinology and Diabetes The Children's Hospital at Westmead Sydney New South Wales Australia

S

Sam Mehr

Department of Allergy and Immunology The Children's Hospital at Westmead Sydney New South Wales Australia

Cite This Article

Peter Hsu, Alan Ma, Meredith Wilson, et al. (2014). CHARGE syndrome: A review. Journal of Paediatrics and Child Health, 50(7), 504-511. https://doi.org/10.1111/jpc.12497

CHARGE syndrome: A review

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