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Difficulties with prenatal diagnosis of the Walker-Warburg syndrome.

作者信息

Low A S C, Lee S L, Tan A S A, Chan D K L, Chan L L

机构信息

Department of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology, Singapore General Hospital, Singapore.

出版信息

Acta Radiol. 2005 Oct;46(6):645-51. doi: 10.1080/02841850510021409.

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.

摘要

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