![]() ![]() The nomenclature would also reference the 3 semicircular canals in each ear. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we propose changing the term CHARGE syndrome to 3C syndrome to emphasize the importance of the semicircular canals and to recall the 3 major criteria for diagnosis: coloboma, choanal atresia, and semicircular canal anomaly. We tested 16 patients for mutations in the CHD7 gene 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive.Ĭonclusions and Relevance Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%) semicircular canal anomalies were present in all patients. Results Eighteen children were included in this study 13 children (72%) were male, and the mean (median range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years 8 months to 8 years). Patients with no temporal bone imaging studies were excluded. Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Two authors independently reviewed each imaging study (A.W. Objective To characterize patients with CHARGE syndrome at our center using Verloes’ criteria and to reevaluate the nomenclature for this condition.ĭesign, Setting, and Participants We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children’s hospital affiliated with Washington University in St Louis. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Importance CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. Shared Decision Making and Communication.Scientific Discovery and the Future of Medicine. ![]() Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience.Challenges in Clinical Electrocardiography. ![]()
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