title: Difficulties with prenatal diagnosis of the Walker-Warburg syndrome.
abstract: 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.
authors.affiliation: Department of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology, Singapore General Hospital, Singapore.
authors.forename: A S C
authors.initials: AS
authors.lastname: Low
authors.forename: S L
authors.initials: SL
authors.lastname: Lee
authors.forename: A S A
authors.initials: AS
authors.lastname: Tan
authors.forename: D K L
authors.initials: DK
authors.lastname: Chan
authors.forename: L L
authors.initials: LL
authors.lastname: Chan
mesh_terms: 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