Difficulties with prenatal diagnosis of the Walker-Warburg syndrome.
We describe a postnatally diagnosed case of Walker-Warburg syndrome--a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling.
Low
A S C
AS
Department of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology, Singapore General Hospital, Singapore.
Lee
S L
SL
Tan
A S A
AS
Chan
D K L
DK
Chan
L L
LL
D000328:Adult; D001921:Brain / Q000002:abnormalities; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000000981:diagnostic imaging; D004453:Echoencephalography; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D009136:Muscular Dystrophies / Q000151:congenital / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal