Gaia Pasquali

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INTRODUCTION We describe a case of early and persistent reverse end-diastolic flow in the middle cerebral artery in a fetus with severe ascites. These features are associated with a rare liver malformation known as ductal plate malformation. CASE PRESENTATION A 28-year-old Caucasian woman was referred to our high-risk obstetric unit at 24 weeks' gestation(More)
The clinicopathological study of a case of relapsing complete bilateral external ophthalmoplegia associated with a sensory-motor polyneuropathy is presented. No other causes apart from diabetes mellitus were ascertained. The sural biopsy demonstrated an axonal as well as demyelinating neuropathy. The physiopathology of the rare cases of diabetic multiple(More)
BACKGROUND The birth prevalence of Apert syndrome is estimated at 1:64,500 and accounts for about 4.5 % of all craniosynostosis with a male/female ratio equal to 1:1. It is associated to allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Majority cases are sporadic. Prenatal ultrasound diagnosis is based on the detection of abnormal(More)
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