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First‐trimester ultrasound diagnosis in a recurrent case of Walker–Warburg syndrome
Author(s) -
Blin G.,
Rabbé A.,
Ansquer Y.,
Meghdiche S.,
FlochTudal C.,
Mandelbrot L.
Publication year - 2005
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.1965
Subject(s) - medicine , ultrasound , first trimester , pregnancy , radiology , fetus , genetics , biology
Abstract We report on two siblings with Walker–Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the second‐trimester scan showed ventricular dilatation and we diagnosed WWS after observing retinal detachment at 26 weeks' gestation and lissencephaly by 32 weeks' gestation in addition to hypoplasia of the cerebellar vermis. The second case was first suspected at 12 weeks' gestation, when we observed a 2.8‐mm nuchal translucency and an unusually large hindbrain vesicle. By 14 weeks' gestation, the lateral ventricles were clearly enlarged (12–13 mm), at 16 weeks' gestation the vitreous chamber appeared to be hyperechogenic, and by 17 weeks' gestation hydrocephalus was evident. The couple chose to continue the pregnancy, and during the third trimester lissencephaly, major hydrocephalus and polyhydramnios developed. Serial ultrasound examination should be offered to a family with a history of WWS and therefore a 1 in 4 risk of recurrence. In some cases, recurrence can be suspected as early as the first trimester, however the diagnosis cannot be excluded on the basis of normal ultrasound appearance until later in pregnancy. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.