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Genetic symdroms

Eyal Nachum, Amichay Shinfeld, Alexander Kogan, Sergey Preisman, Shany Levin, Ehud Raanani
BACKGROUND: Patients with Marfan syndrome are referred for cardiac surgery due to root aneurysm with or without aortic valve regurgitation. Because these patients are young and frequently present with normal-appearing aortic cusps, valve sparing is often recommended. However, due to the genetic nature of the disease, the durability of such surgery remains uncertain. METHODS: Between February 2004 and June 2012, 100 patients in our department suffering from aortic aneurysm with aortic valve regurgitation underwent elective aortic valve-sparing surgery...
August 2013: Israel Medical Association Journal: IMAJ
Anne Sabers, Katja Larsen, Susanne Blichfeldt, Lene Sahlholdt, John Oskaer Rasmussen
INTRODUCTION: Treatment with valproate is associated with an increased risk of teratogenicity compared to other antiepileptic drugs and can cause a complex of serious symptoms usually referred to as "foetal valproate symdrome" which is characterised by major and minor malformations in association with developmental delay. This paper aims to give attention to the syndrome through four case descriptions. Furthermore, possible risk factors and the use of the mutation 677C-T as a risk marker are discussed...
January 19, 2009: Ugeskrift for Laeger
M A Toro-Sola, M L Kistenmacher, H H Punnett, A M DiGeorge
Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome. A critical review of the literature provides no evidence for the previously accepted single gene mode of inheritance.
April 1975: Clinical Genetics
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