Literature DB >> 9545604

CHARGE association: an update and review for the primary pediatrician.

K D Blake1, S L Davenport, B D Hall, M A Hefner, R A Pagon, M S Williams, A E Lin, J M Graham.   

Abstract

CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome. This review of CHARGE association presents diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis. This review also summarizes our current understanding of the management for this complex and chronic multiple congenital anomaly condition and discusses the pathogenetic basis for this condition.

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Year:  1998        PMID: 9545604     DOI: 10.1177/000992289803700302

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN: 0009-9228            Impact factor:   1.168


  112 in total

1.  Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Authors:  Caitlin L Hale; Adrienne N Niederriter; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2015-11-21       Impact factor: 2.802

2.  Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

Authors:  D Johnson; N Morrison; L Grant; T Turner; J Fantes; J M Connor; V Murday
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

3.  CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Authors:  M C J Jongmans; R J Admiraal; K P van der Donk; L E L M Vissers; A F Baas; L Kapusta; J M van Hagen; D Donnai; T J de Ravel; J A Veltman; A Geurts van Kessel; B B A De Vries; H G Brunner; L H Hoefsloot; C M A van Ravenswaaij
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

4.  Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings.

Authors:  A K Morimoto; R H Wiggins; P A Hudgins; G L Hedlund; B Hamilton; S K Mukherji; S A Telian; H R Harnsberger
Journal:  AJNR Am J Neuroradiol       Date:  2006-09       Impact factor: 3.825

5.  Prevalence of genetic testing in CHARGE syndrome.

Authors:  Timothy S Hartshorne; Kasee K Stratton; Conny M A van Ravenswaaij-Arts
Journal:  J Genet Couns       Date:  2010-09-28       Impact factor: 2.537

6.  Autism with ophthalmologic malformations: the plot thickens.

Authors:  Marilyn T Miller; Kerstin Strömland; Liana Ventura; Maria Johansson; Jose M Bandim; Christopher Gillberg
Journal:  Trans Am Ophthalmol Soc       Date:  2004

7.  Congenital diaphragmatic hernia in CHARGE syndrome.

Authors:  G Casaccia; M C Digilio; P L Seymandi; P Bagolan
Journal:  Pediatr Surg Int       Date:  2007-06-19       Impact factor: 1.827

8.  Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.

Authors:  E Martínez-Quintana; F Rodríguez-González; P Garay-Sánchez; A Tugores
Journal:  Mol Syndromol       Date:  2013-10-04

9.  Guilty as CHARGED: p53's expanding role in disease.

Authors:  Jeanine L Van Nostrand; Laura D Attardi
Journal:  Cell Cycle       Date:  2014       Impact factor: 4.534

10.  Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.

Authors:  Chia-Hua Chiu; Joseph Thakuria; Pankaj B Agrawal
Journal:  Indian J Pediatr       Date:  2009-12-11       Impact factor: 1.967

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