Congenital malformations - Edocr

CHAPTER 16 EAR ANOMALIES 113
Figure 16-3. Examples of varying degrees of microtia. (Reprinted with permission from Wang
RY, Earl DL, Ruder RO, Graham JM, Jr. Syndromic ear anomalies and renal ultrasounds. Pediatrics,
Vol. 108, e32. Copyright 2001 by the AAP.)
Of particular note, it is important to recognize
that ear malformations are associated with
an increased frequency of structural renal anomalies
compared to the general population. 5 This
is likely due to the fact that ear malformations are
often associated with specific multiple congenital
anomaly syndromes that have a high incidence of
renal anomalies including CHARGE syndrome, (see
Chap. 17) oculo-auriculo-vertebral (OAV) spectrum,
branchio-oto-renal (BOR) syndrome, and Townes
Brocks syndrome (TBS).
BOR syndrome is characterized by malformations
of the external, middle, and inner ear associated
with hearing loss, branchial fistulae and
cysts, and renal malformations. The branchial
cysts and fistulae are usually found on the lateral