Abstract
CHARGE syndrome is an autosomal dominant disorder caused by variations in the chromodomain-helicase-DNA-binding protein 7 (CHD7) gene. The characteristic findings of the syndrome include coloboma (C), heart anomalies (H), choanal atresia (A), growth and developmental delay (R), genitourinary system anomalies (G), and ear anomalies and/or hearing loss (E). A 7.7-years-old male patient was initially referred after a partial empty sella appearance was noted on brain imaging during evaluation for developmental delay at 10 months of age. He had undergone surgery for choanal atresia and congenital heart disease. The patient exhibited severe postnatal growth retardation, hypertelorism, epicanthal folds, cleft palate, a thin upper lip, bilateral ear anomalies, preaxial polydactyly, and bilateral undescended testes. He had motor and mental developmental delay. Ophthalmological examination showed retinal atrophy and coloboma. Genetic analysis identified a novel, heterozygous c.5050+2T>C variant in intron 22 of the CHD7 gene, confirming the diagnosis of CHARGE syndrome. Furthermore, the patient had undergone bilateral orchiopexy at two years of age, and growth hormone therapy was initiated after a diagnosis of complete growth hormone deficiency at 19 months of age. A novel heterozygous intronic variant in the CHD7 gene was identified in a patient, who presented with classical signs of CHARGE syndrome. Early recognition and diagnosis is important to enable initiation of timely treatment for potential complications associated with the disorder.
Keywords: Case report, CHARGE, intronic variant, growth hormone, syndrome
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