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Dysmorphology

VATER, CHARGE, OAV

QuestionAnswer
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
Created by: KChatham
 

 



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