RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164072096
T1 Harboyan Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164072096
RD 2024/04/19
AB A  very  rare  condition  characterized  by  corneal  opacities  present  at  birth  and  progressive  neural  deafness.  The  deafness  usually  does  not  occur  until  the  second  or  third  decade  of  life.  However,  the  use  of  audiometry  already  shows  hearing  loss  in  the  first  decade  of  life.  The  cornea  is  thickened  and  edematous  resulting  in  various  degrees  of  visual  impairment,  even  to  the  level  of  counting  fingers.  Electrophysiologic  studies  have  been  normal.