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UAMS Dysmorphology 2

Ears and Eyes

First Branchial arch Tragus and anti-tragus
Second Branchial arch Everything else
Six Hillocks of Hiss The pieces which come together to form the outer ear.
Preauricular pits Branchio-oto-renal syndrome. Can be an indicator of ear problems
Preauricular tags Extra skin near the opening of the ear.
Darwinian tubercles Medically insignificant. Small protrusion on the helix of auricle
Mozart ear May be a part of: CHARGE syndrome, T18 and Deletion 18q.
Ear lobe creases Clinically most significant. Beckwith Weidemann syndrome.
Crytotia Hidden ear
Auricular muscle defects lop, protruding and cup shaped
Anotia Absence of ear
Microtia Small ear
Hearing loss may be attributed to: Canal atresia and 1st/2nd arch defects. OAV spectrum most important condition.
Investigate Microtia Test hearing, Renal ultrasound and X-ray cervical spine
Stahl Ear Crumpled ear - Abnormal and distinctive fold of the helix.
Beals syndrome crumpled ear with joint contractures and camptodactyly
Treacher Collins Malformed auricles, Conductive deafness, Malar hypoplasia, Down slanting palpebral fissures.
The 5 steps of assessing ear dysmorphology 1) Note ear differences 2) Name said differences 3) Check hearing 4) Determine if there are any other problems with the spine, kidney and heart. 5) Look at the rest of the head for any mid-line defects.
4 wks gestation of the Eye Start of eye development
7 wks gestation of the Eye see lens, sclera, pigmented choroids layers and iris.
15 wks gestation of the Eye cornea, retina and optic nerve.
Hypermetropia Long-sightedness - Can't see near objects
Myopic Short-sightedness - Power of the eyes it too great for the length. Image is in front of the retina.
Inspection of the eye includes: Sclera, Iris, Cornea, Lens, Pupil, Extraocular movements, and red reflex.
Spectrum variants in eyes astigmatism, blue sclera, eye pigment change from infancy
Minor Anomalies of the eye includes? Iris colobomas, iris pigmentation, brushfield spots.
Eye Deformations tumors
Disruptions of the eye Retinitis pigmentosa, retinoblastoma
Dysplasias of the eye Cataract, Corneal opactities, Albinism, Lisch nodules
Malformations of eye - conception to gestional week 5. Anophthalmos, microphthalmos, synophthalmos/cyclopia, ocular coloboma
Malformations of eye - weeks 6 - 12. Optic nerve hypoplasia
Malformations of eye - weeks 13 - 26 aniridia, dislocation of the lens, cryptophthalmos
Malformations of eye - weeks 27 through birth epibulbar dermoids
exotropia outward/divergence of the eye
esotropia inward/convergence of the eye
esophoria inward drifting eye
exophoria outward drifting eye
What is the Periocular Region structure that surrounds, supports, and protects the optic globe
Landmarks of Periocular Region orbits, palpebral fissure, inner/medial canthus, outer/lateral canthus, eylashes, eyelids, eyebrows, and nasolacrimal ducts.
Inspection of the Periocular Region Spacing of the orbits, configuration of the lids, brows, and lashes and ptosis
Minor Varients of Periocular region Racial and familial variants, inner epicanthic fold, almond-shaped eyes, synophrys, and lashes
Minor Anomalies of the Periocular region Lacrimal duct stenosis or atresia
Deformations of the Periocular Region Asymmetry of the orbits, Enophthalmia, Exophthalmia
Disruptions of the Periocular Region Amniotic Bands
Malformations of the Periocular Region Ocular hypertelorism, Ocular Hypotelorism, telecanthus, eyelid clefts, ectropion, blepharophimosis, short palpebral fissures.
Created by: btkosewski