Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
Traylor KS et al: Inner ear anomalies in congenital hearing loss: imaging, genetics, & associated syndromes. NeuroGraphics. 9(6):358-72, 2019
de Geus CM et al: Imaging of clival hypoplasia in CHARGE syndrome and hypothesis for development: a case-control study. AJNR Am J Neuroradiol. 39(10):1938-42, 2018
Mahdi ES et al: Clival malformations in CHARGE Syndrome. AJNR Am J Neuroradiol. 39(6):1153-6, 2018
Hoch MJ et al: Head and neck MRI findings in CHARGE syndrome. AJNR Am J Neuroradiol. 38(12):2357-63, 2017
Green GE et al: CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol. 35(8):1466-70, 2014
Holcomb MA et al: Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope. 123(3):793-6, 2013
Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
Fujita K et al: Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol. 30(3):629-34, 2009
Jongmans MC et al: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 75(1):65-71, 2009
Lee YW et al: Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet. 75(3):290-3, 2009
Wincent J et al: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet. 52(4):271-2, 2009
Blake KD et al: Cranial nerve manifestations in CHARGE syndrome. Am J Med Genet A. 146A(5):585-92, 2008
Morimoto AK et al: Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 27(8):1663-71, 2006
Sanlaville D et al: Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 43(3):211-7, 2006
Tilea B et al: Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases. Pediatr Radiol. 36(2):149-54, 2006
Verloes A: Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 133A(3):306-8, 2005
Amiel J et al: Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet. 99(2):124-7, 2001
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
TERMINOLOGY
Synonyms
CHARGE association, Hall-Hittner syndrome
Definitions
CHARGE acronym
Coloboma
Heart anomaly
Atresia of choanae
Restriction: Mental & somatic development
Genital hypoplasia
Ear abnormalities
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
Traylor KS et al: Inner ear anomalies in congenital hearing loss: imaging, genetics, & associated syndromes. NeuroGraphics. 9(6):358-72, 2019
de Geus CM et al: Imaging of clival hypoplasia in CHARGE syndrome and hypothesis for development: a case-control study. AJNR Am J Neuroradiol. 39(10):1938-42, 2018
Mahdi ES et al: Clival malformations in CHARGE Syndrome. AJNR Am J Neuroradiol. 39(6):1153-6, 2018
Hoch MJ et al: Head and neck MRI findings in CHARGE syndrome. AJNR Am J Neuroradiol. 38(12):2357-63, 2017
Green GE et al: CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol. 35(8):1466-70, 2014
Holcomb MA et al: Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope. 123(3):793-6, 2013
Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
Fujita K et al: Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol. 30(3):629-34, 2009
Jongmans MC et al: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 75(1):65-71, 2009
Lee YW et al: Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet. 75(3):290-3, 2009
Wincent J et al: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet. 52(4):271-2, 2009
Blake KD et al: Cranial nerve manifestations in CHARGE syndrome. Am J Med Genet A. 146A(5):585-92, 2008
Morimoto AK et al: Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 27(8):1663-71, 2006
Sanlaville D et al: Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 43(3):211-7, 2006
Tilea B et al: Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases. Pediatr Radiol. 36(2):149-54, 2006
Verloes A: Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 133A(3):306-8, 2005
Amiel J et al: Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet. 99(2):124-7, 2001
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