12/28/2023 0 Comments Mild charge syndrome![]() ![]() CHARGE Syndrome: Report of 47 Cases and Review. Tellier A, Cormier-Daire V, Abadie V et al. CT of the Temporal Bone in the CHARGE Association. Lemmerling M, Dhooge I, Mollet P, Mortier G, Van Cauwenberge P, Kunnen M. Oesophageal Atresia, Tracheo-Oesophageal Fistula, and the VACTERL Association: Review of Genetics and Epidemiology. Ralph Weissleder, Jack Wittenberg, Mukesh G. The term "CHARGE" was first coined by R A Pagon to describe an association between the symptoms, and subsequent work isolated a common genetic defect seen in 60% of individuals: the CHD7 defect. This constellation of pathology was initially described by B D Hall and independently by H M Hittner in 1979. The prognosis is variable depending on the extent of defects. cochlear nerve deficiency/absence (15-83%) 8.internal auditory canal dysplasia (100%).atretic/stenotic cochlear aperture (37-77%) 8īrain MRI demonstrates the following abnormalities 7,9:.cochlear incomplete partition type II (8%) or cochlear hypoplasia type III (4%) or type IV (26%) 10.semicircular canal aplasia (77-100%) or dysplasia (20%) 8,10.dysplastic or hypoplastic vestibule (58%) 8.aberrant course of the vestibular aqueduct (46-68%) 8,10.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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