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Prenatal sonographic diagnosis of tuberous sclerosis complex

✍ Scribed by Ali Gedikbasi; Kazim Oztarhan; Volkan Ulker; Gulseren Aslan; Ahmet Gul; Esra Sener-Arslan; Yavuz Ceylan

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 201 KB
Volume: 39
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.20857

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✦ Synopsis

Abstract

We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detected a de novo mutation in the TSC2 gene. Postnatal follow‐up and neurological examination were normal, as were the results of Holter monitoring. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011;

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