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Prenatal diagnosis of lissencephaly: Miller-Dieker syndrome

✍ Scribed by John P. McGahan; Arthur Grix; Eugenio O. Gerscovich

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 428 KB
Volume: 22
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.1870220908

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✦ Synopsis

Lissencephaly is a rare developmental disorder resulting from impaired neural migration occurring from 6 to 15 weeks' gestation.' In its most severe form, it results in complete absence of gyri and sulci, and is called agyria. In other cases, there may be only a few abnormal gyri. Prenatal diagnosis is important because of the nearly uniform poor clinical outcome in these cases. However, sonographic diagnosis may be difficult because of the subtle features and variable appearance of lissencephaly.' Here we report a case of type I lissencephaly due to the Miller-Dieker syndrome and present its prenatal sonographic features.

CASE REPORT

A 19-year-old patient (gravida 2, para 0-1, SAB 1) had a pregnancy complicated by mild spotting and cramping at 7% weeks, menstrual age (MA) for which an ultrasound examination was obtained that documented an intrauterine pregnancy. She had a repeat ultrasound examination

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