11/16/2023 0 Comments Charge syndrome meaning![]() The major criteria include 2 anomalies associated with the original CHARGE acronym: coloboma and choanal atresia. Verloes 4 published revised criteria for CHARGE syndrome in which major and minor signs were noted to comprise 3 tiers: typical, partial, and atypical ( Table 1). 3 Now that genetic testing is available, the definition of CHARGE syndrome has shifted slightly, although approximately 30% of children with clinical features typical of CHARGE syndrome lack the CHD7 mutation. This syndrome has been under careful reexamination since the identification of mutations in the chromodomain helicase DNA-binding protein 7 gene ( CHD7 OMIM, 608892) as the underlying molecular cause of CHARGE syndrome. The cardinal features of CHARGE syndrome were originally coloboma, heart defects, atresia choanae, retarded growth and development, genitourinary disorders, and ear abnormalities. In 1981, Pagon et al 1 coined the acronym CHARGE for a constellation of congenital anomalies observed in newborns originally described by Hittner et al 2 in 1979. This new name for CHARGE syndrome would provide a mnemonic and focus the disease on the most important clinical criteria for diagnosis. 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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