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22 Cards in this Set

  • Front
  • Back
Anopthalmia
(most common form)
absence of ocular structures
Secondary- Forebrain defect- several structures are affected
Cyclopia
I eye, 1 orbit
Synopthalmia
2 eyes, 1 orbit
Coloboma iridis
Failure of the optic stalk to completely close
Congenital Detachment of the Retina
Failure of the intraretinal space to close
Congenital Cararact
Clouding of the Lens
from interference with lens Devo
Rubella
Congenital Glaucoma
increased occular fluid pressure from abnormal development of the fluid-draining sources of the eye
Persistent Pupillary Membrane
Hyoid vessels don't regress and stay in fromnt of the lens...can cover pupil
Coloboma
failure of complete closure of the CHOROID FISSURE
(hole in one of the structures of the eye)
Congenital Ptosis
levator palpebrae muscle
injury to occulomotor nerve
Microopthalmos
reduction in volume of eyeball
most severe= Clinical Anopthalmia
Cryptopthalmos
absence of EYELIDS
Anotia-Microtia Spectrum
small auricle
auricular tags
7th auricular hillock develops (usually only 6)- may form tag in front of tragus. may signal neurosensory defect
auricular sinus
pits, fistula
duplication of the 1st pharyngeal cleft- sinus running along face below ear- deafness
Otocephaly
auricles don't move superiorly- usually due to MANDIBULAR HYPOPLASIA (1st arch didn't develop correctly) (Mickel's cartilage)
Mandibular Dystosis can cause
Low Set Ears
Mental Atresia or Hypoplasia
absence of extrernal auditory meatus...stack of ectodermal cells fails to canalize
ABSENSE OF HOLE (bilateral)
Cholesteatoma
benign growth of endoderm in the tympanic cavity medial to the eardrum
*overgrowth of endodermal tissue
Vestibular Cochlear Dysplasia
flattented cochlea and decreased number of turns causes underdeveloped vestibular structures. (poor hearing and balance)
2 types of congenital hearing loss
1) Conduction- external and/or middle ear problem- sound not transmitted to cochlea

2) Sensorineural- inner ear- nerve problem- no signal generated for transmission to brain
what is the inheritance pattern of congenital hearing loss?
autosomal recessive