Dysmorphology Word Scramble
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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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