A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg.
Ophthalmo-acromelic syndrome type Waardenburg is an extremely rare autosomal recessive syndrome comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. We report a case of ophthalmo-acromelic syndrome type Waardenburg diagnosed prenatally.
Kara
F
F
Zübeyde Hn. Women's Hospital, Ankara, Turkey.
Yesildaglar
N
N
Tuncer
R A
RA
Semerci
N
N
Onat
N
N
Yilmazer
Y C
YC
Sipahi
T
T
Erkaya
S
S
D000328:Adult; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D011247:Pregnancy; D012131:Respiratory Insufficiency; D016216:Ultrasonography, Prenatal; D014849:Waardenburg Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*