12/9/2103

12/9/2013

Answers:

What is the mode of transmission for most forms of hereditary hearing loss?
A) Autosomal Recessive 
B) Autosomal Dominant 
C) X-linked 
D) Mitochondrial 
E) Syndromic

Most congenital hearing loss is nonsyndromic and within that group 80% are transmitted via autosomal recessive inheritance.

What is the classic appearance on an audiogram for nonsyndromic congenital hearing loss?

The classic appearance is a "cookie bite" or U shape.

MC Questions:
A 10 year old boy is found to have severe bilateral hearing loss and a large goiter. What is the most likely diagnosis?
A) MENIIB 
B) Neurofibromatosis Type I 
C) Neurofibromatosis Type II 
D) Pendred Syndrome 
E) Waardenburg Syndrome 
D) Treacher Collins Syndrome

Free Response Question:
What factors help categorize the four categories of Waardenburg Syndrome?

Quick Facts:
Branchio-Oto-Renal Syndrome = Branchial anomalies, otologic anomalies, renal malformations.  
-Most often mixed hearing loss.

Neurofibromatosis Type II = bilateral tumors of CNVIII and meningiomas, schwannomas, gliomas or juvenile subcapsular cataracts.  
-Symptoms begin in late childhood.  
-Unilateral hearing loss in 50% of patients.