Abruzzo Erickson syndrome (medical condition): A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
Abruzzo Erickson syndrome
# Cleft palate # Deafness # Eye abnormality # Iris defect # Reduced vision # Abnormal fusion of the two main forearm bones # Protruding ears # Short stature # Coloboma # Cleft palate # Deafness # Eye abnormality # Iris defect # Reduced vision # Abnormal fusion of the two main forearm bones # Protruding ears
1. Conductivehearing loss 1. Externalauditory canal disorders 1. Atresia of external auditory canal 2. Impacted cerumen 3. Otitis externa 4. Exostosis 5. Masses 2. Middle ear disorders 1. Acuteand chronic otitis media 2. Otitis media with effusion 3. Tympanic membrane perforation 4. Hemotympanum 5. Tympanosclerosis 6. Ossicular chain defect, disruption,or fixation 7. Cholesteatoma and other middle earmasses 2. Sensorineural hearing loss 1. Sensorineuralhearing loss without associated abnormalities 2. Sensorineural hearing loss with associatedabnormalities 3. Chromosomal disorders 4. Inner ear malformations 1. Labyrinthineaplasia 2. Common cavity malformation 3. Cochlear malformations 4. Large vestibular aqueduct 5. Prematurity 6. Hypoxic-ischemic encephalopathy 7. Bilirubin encephalopathy (kernicterus) 8. Infection 9. Trauma 10. Drugs 11. Perilymph fistula 12. Neoplasm 13. Ménière disease 14. Unknown 3. Mixed hearing loss
1. Is it unilateral or bilateral? Unilateral deafness may be due to local conditions such as wax, a foreign body, otitis media, or ruptured drum, or it may be due to neurologic conditions such as Ménière\'s disease, acoustic neuroma, or multiple sclerosis. Bilateral deafness is more likely due to otosclerosis, acoustic trauma, presbyacusis, or drug toxicity. 2. Are there abnormalities on otoscopic examination of the ear? It is very important to do a thorough examination of the ear, as one may find wax, foreign body, otitis media, cholesteatoma, or ruptured drum. 3. Is there associated vertigo? The presence of vertigo should make one think of Ménière\'s disease or some neurologic condition such as acoustic neuroma, multiple sclerosis, or basilar artery insufficiency. 4. What are the results of the Rinne test? Normally, the Rinne test should show a 2 to 1 ratio of air to bone hearing. In otosclerosis, the ratio approaches 1 to 1, but in sensory neural deafness the ratio is preserved at 2 to 1. In unilateral deafness, the Weber test is helpful. This will lateralize to the affected ear if the problem is a conductive deafness, and it will lateralize to the good ear if the problem is a sensory neural deafness.