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VATER, CHARGE, OAV

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OAV causes abnormalities of the...   ear, eyes, spine/vertebrae, mouth  
OAV ears   Small, middle ear anomaly causing deafness, preauricular tags or pits  
OAV eyes   Small, epibulbar dermoid, lipdermoid, notch in upper lid, strabismus  
OAV vertebrae/spine   Hemi or hypoplastic vertebrae (usually cervical)  
OAV mouth/oral   tongue, soft palate and secretion abnormalities  
Mental deficiency and OAV appears to be associated with   micropthalmia  
But most children OAV have what type of Intelligence?   normal  
What types of cardiac anomalies are common with OAV?   VSD, PDA, Tetralogy of Fallot; Coartaction of the aorta  
Other anomalies associated with OAV   CP/CL; kidney anomalies; esophageal atresia; hypoplastic lungs; growth and IQ deficiencies  
VATER stands for   Vertebral, anal atresia, TE fistula, esophageal atresia, radial dysplasia; renal dysplasia  
VATER frequency   1/6,000  
Natural hx of VATER   Early infancy patients exhibit failure to thrive and have slow developmental progress. Majority have normal brain functioning and strive towards rehabilitation  
Genetic of VATER   Largely unknown, linked to HOXD13 gene, SHH pathway, trisoy 13 and 18; mt mutations; and diabetic mothers' babies.  
Need three or more of the following features for a Dx of VATER:   Vertral anomalies; VSD or other cardiac defect; anal atresia; TE fistula with esophageal atresia; radial dysplasia; renal anomaly; SUA  
Other associated features of VATER   pre and postnatal growth deficiency; cardiac anomalies; laryngeal stenosis; ear anomaly; large fontanels; lower limb defects; rib anomaly; external genitalia defect; spinal dysraphia with tethered cord  
C.H.A.R.G.E.   Coloboma, heart defects, choanal atresia, retarded growth and developmental delays, genital abnormalities, ear anomalies  
CHARGE mutation   CHD7 gene, AD, often associated with other syndromes  
CHARGE and poor prognosis   males, babies with atrial septal defects of the heart, TE fistula and bilateral choanal atresia  
Patients must have all 4 of the following for a CHARGE Dx   1. Ocular coloboma 2. Choanal atresia or stenosis 3. Cranial nerve dysfunction or anomaly 4. CHARGE ear  
CHARGE face   1. Square face 2. Broad forehead 3. Prominent nasal briduge and columella 4. Flat midface  
Management and Treatment of CHARGE   Swallowing: meet with a feeding team; MRI of middle ear, if formation is normal discuss cochlear implants; nussen fundoplication for GE reflux  


   





 
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Created by: Kali Chatham Kali Chatham on 2010-05-10



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