Neonatal diagnosis of tuberous sclerosis
β Scribed by L. A. Ramenghi; A. Verrotti; S. Domizio; C. Rocco; G. Morgese; G. Sabatino
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 314 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0256-7040
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## 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 detec
We report the ultrasound detection of cranial abnormalities at 14 weeks' gestation in a fetus subsequently confirmed as having tuberous sclerosis using DNA linkage analysis within the affected family. The presence of asymmetrical ventricular enlargement persisted antenatally. Magnetic resonance imag