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Dysmorphology
VATER, CHARGE, OAV
| Question | Answer |
|---|---|
| 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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