large (>1 mm) emissary veins (30%) or persistent petrosquamosal sinus (12-13%) 8, 10. aberrant course of the facial nerve (38-88%) 8,10.absent stapedius, pyramidal eminence, and sinus tympani (92%) 3.dysplastic ossicles with ankylosis (62-93%) 8,10.Temporal bone CT demonstrates the following abnormalities: Radiographic featuresĪll CHARGE patients are indicated to undergo CT of the temporal bone and MRI of the brain, ideally in the same anesthesia session 11. Approximately two-thirds of cases are caused by a defect in the CHD7 (chromodomain helicase DNA-binding protein 7) gene on chromosome 8 4,7. Most cases are sporadic but there are occasional autosomal dominant forms. esophageal atresia / tracheo-esophageal fistula (~15%) 2ĬHARGE syndrome is thought to occur due to a disturbance in embryonic differentiation around the 35 th to 45 th day of gestation.abnormal auricle: short and wide (lop/cup shaped), absent lobule, truncated helix, prominent antihelix.characteristic ear anomalies (some or all of the following) (90%).glossopharyngeal or vagal (60-80%): velopharyngeal incoordination for suck/swallow.vestibulocochlear (95-100%): sensorineural deafness.choanal atresia/stenosis (45%) or cleft palate (25-50%).coloboma (80%): ranges from defect of iris, retina, choroid, or disc, to microphthalmia or anophthalmia.possible/probable CHARGE syndrome: one or two major characteristics and several minor characteristics.definite CHARGE syndrome: 4 major characteristics or 3 major plus 3 minor characteristics.The diagnosis of CHARGE syndrome can be made on clinical grounds 6,11: Clinical presentationĬHARGE syndrome is usually suspected at birth once multiple congenital abnormalities are identified. The incidence is 1-12 per 100,000 births 6.
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