Age:

ปีเดือน

sex:


symtom:


history:

Her mother notices that her baby has got bilateral blue eyes since she was born. The girl never complains about her vision.
Her mother brings the girl to Ramathibodi hospital for getting an eye examination

PE:

­




­                                         OD                  OS
VA                                        20/20              20/20
Conjunctiva                                  not injected
Cornea               clear
A/C                  deep, quiet
                     iris hypopigmentation
Lens                       clear
Fundus                                        as pictures



 


General examination :
 
­Skin & hair :                     no hypopigmentation
                no poliosis
­HEENT :                          blue eyes
           prominent broad root of nose
          dystopia canthorum
­Heart & Lungs :                normal S1S2  no murmurs
­Neuro :                            intacted


diag_link:

Problem lists:
-Bilateral iris hypochromia
-Dystopia canthorum
-Hypopigmentation of fundi
-Bilateral congenital SNHL..
-Abnormal shape of nose and eyebrows......!

detail:


diff_dx:

1.Waardenburg syndrome 2.Ocular albinism 3.Piebaldism with deafness (Woolf’s syndrome)

date_post:

2009-11-28

user_post:

Tukadik