Meisner JK et al: Congenital heart defects in CHARGE: the molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet C Semin Med Genet. 184(1):81-9, 2020
Beger O et al: Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. Surg Radiol Anat. 41(5):601-5, 2019
Millischer AE et al: Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. Prenat Diagn. 39(9):781-91, 2019
Acanfora MM et al: Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome. Ultrasound Obstet Gynecol. 48(2):181-4, 2016
Busa T et al: Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenat Diagn. 36(6):561-7, 2016
Tempfer-Bentz E et al: CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia. Ultrasound Obstet Gynecol. 43(6):713-4, 2014
Colin E et al: Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. Prenat Diagn. 32(7):692-4, 2012
Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
Kosaki K: Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom (Kyoto). 51(1):12-5, 2011
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
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KEY FACTS
Terminology
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TERMINOLOGY
Definitions
CHARGE refers to nonrandom cluster of malformations seen in children, including
Meisner JK et al: Congenital heart defects in CHARGE: the molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet C Semin Med Genet. 184(1):81-9, 2020
Beger O et al: Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. Surg Radiol Anat. 41(5):601-5, 2019
Millischer AE et al: Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. Prenat Diagn. 39(9):781-91, 2019
Acanfora MM et al: Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome. Ultrasound Obstet Gynecol. 48(2):181-4, 2016
Busa T et al: Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenat Diagn. 36(6):561-7, 2016
Tempfer-Bentz E et al: CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia. Ultrasound Obstet Gynecol. 43(6):713-4, 2014
Colin E et al: Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. Prenat Diagn. 32(7):692-4, 2012
Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
Kosaki K: Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom (Kyoto). 51(1):12-5, 2011
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
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