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VATER, CHARGE, OAV

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Question
Answer
show ear, eyes, spine/vertebrae, mouth  
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show Small, middle ear anomaly causing deafness, preauricular tags or pits  
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show Small, epibulbar dermoid, lipdermoid, notch in upper lid, strabismus  
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OAV vertebrae/spine   show
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show tongue, soft palate and secretion abnormalities  
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show micropthalmia  
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But most children OAV have what type of Intelligence?   show
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show VSD, PDA, Tetralogy of Fallot; Coartaction of the aorta  
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Other anomalies associated with OAV   show
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show Vertebral, anal atresia, TE fistula, esophageal atresia, radial dysplasia; renal dysplasia  
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show 1/6,000  
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Natural hx of VATER   show
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show Largely unknown, linked to HOXD13 gene, SHH pathway, trisoy 13 and 18; mt mutations; and diabetic mothers' babies.  
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Need three or more of the following features for a Dx of VATER:   show
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Other associated features of VATER   show
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show Coloboma, heart defects, choanal atresia, retarded growth and developmental delays, genital abnormalities, ear anomalies  
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CHARGE mutation   show
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CHARGE and poor prognosis   show
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show 1. Ocular coloboma 2. Choanal atresia or stenosis 3. Cranial nerve dysfunction or anomaly 4. CHARGE ear  
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show 1. Square face 2. Broad forehead 3. Prominent nasal briduge and columella 4. Flat midface  
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Management and Treatment of CHARGE   show
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Created by: KChatham
Popular Genetics sets