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Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)

✍ Scribed by Berry, Rebecca ;Wilson, Harry ;Robinson, Jeanne ;Sandlin, Constance ;Tyson, Wes ;Campbell, John ;Porreco, Richard ;Manchester, David


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
629 KB
Volume
34
Category
Article
ISSN
0148-7299

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We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in