Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome
نویسندگان
چکیده
منابع مشابه
Baraitser-Winter cerebrofrontofacial syndrome.
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and oc...
متن کاملGeneralized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome☆
•Baraitser-Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.•Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.•Generalized epilepsy is seen in half of those with BWMS.•Seizures in BWMS can be absence, myoclonic, tonic, or tonic-clonic.
متن کاملBaraitser and Winter syndrome with growth hormone deficiency
Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totall...
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OBJECTIVE Biological aortic valve conduits are rarely used because of the concern that possible structural valve deterioration would require complete conduit replacement in a technically demanding operation. The aim of the study was to evaluate the 10-year experience with complete aortic-root replacement using a modified composite graft in which biological valve prosthesis was located inside th...
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383 The Editor, A 65‐year‐old male weighing 60 kg presented with chest pain for 1 week. He was a known hypertensive and diabetic for past 19 years, and suffering from Parkinson disease (PD) for past 5 years. Echocardiography and computed tomography scan of the chest revealed acute Type 1 aortic dissection and moderate ventricular dysfunction. The patient was on tablet telmisartan, metoprolol, r...
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ژورنال
عنوان ژورنال: The Turkish Journal of Thoracic and Cardiovascular Surgery
سال: 2018
ISSN: 1301-5680,2149-8156
DOI: 10.5606/tgkdc.dergisi.2018.15758