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CHARGE syndrome

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

Vesicoureteral reflux

Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.

Total: 1

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PMID (PMCID)
2051459	MALE	Infant, Newborn
	The CHARGE association and athyreosis.
	Marin JF, Garcia B, Quintana A, Barrio R, Sordo MT, Lozano C. J Med Genet. 1991;28(3):207-8.
	We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).