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Difficulties with prenatal diagnosis of the Walker-Warburg syndrome.

A S C AS Low, S L SL Lee, A S A AS Tan, D K L DK Chan, and L L LL Chan

Acta radiol 46(6):645-51 (2005) PMID 16334849

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.

DOI: 10.1080/02841850510021409
Version: za2963e q8za9 q8zbf q8zcd q8zd1 q8zea q8zf4 q8zg8
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