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Severe pes planus (talipes calcaneovalgus).

Severe pes planus (talipes calcaneovalgus).

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Article
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Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of clinical manifestations in different organ systems. Patients with Marfan syndrome (MFS) whose lifetimes are extended may be encountered as acute abdomen (appendicitis) cases apart from the obligatory reasons and emergencies arising naturally out of...

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... was learned/understood from the anamnesis that the patient's elder brother had the same disease and that two other brothers died after birth (unexplained sudden death). Blindness in the left eye (probably ocular features of MFS), long arms and legs, arachnodactyly (Figure 1), kyphoscoliosis, pectus excavatum (Figure 2), and severe pes planus (talipes calcaneovalgus) ( Figure 3) were found to be present in the physical examination. ...

Citations

... Multisistemik birçok patolojiyi içeren bu olgular ender de olsa kalp ve aort patolojileri dışında yineleyen inguinal, femoral, herni operasyonları, eklem dislokasyonları (11) , sezaryen (12,13) , oküler ameliyatlar (14) ve akut batın (15) gibi nedenlerle anesteziyologların karşısına çıkabilmektedir. Acil olgularda tespit edilmemiş anevrizma varlığı düşünülerek anestezi uygulamasında hipertansiyon, hipotansiyon ve taşikardiye neden olmamaya özen göstermek gereklidir. ...
Article
Full-text available
Marfan Syndrome is an autosomal dominant connective tissue disorder effecting skeletal, cardiovascular, respiratory and ocular systems. The most serious complication of Marfan Syndrome is progressive dilatation of aorta which resulting in aortic dissection and rupture. Although this syndrome is rare, it can be encountered in elective and emergency cases other than cardiac and aortic pathologies. Difficult endotracheal intubation and joint dislocations must be considered in these cases. In this case report we aimed to present our anesthetic approach for an elective thoracoabdominal aneurysm operation in a patient with Marfan Syndrome.
Article
Full-text available
Background Pectus excavatum (PE) could be part of a genetic disorder, which then has implications regarding comorbidity, the surgical correction of PE, and reproductive choices. However, referral of a patient presenting with PE for genetic analysis is often delayed because additional crucial clinical signs may be subtle or even missed in syndromic patients. We reviewed the literature to inventory known genetic disorders associated with PE and create a standardized protocol for clinical evaluation. Methods A systematic literature search was performed in electronic databases. Genetic disorders were considered associated with PE if studies reported at least five cases with PE. Characteristics of each genetic disorder were extracted from the literature and the OMIM database in order to create a practical guide for the clinician. Results After removal of duplicates from the initial search, 1632 citations remained. Eventually, we included 119 full text articles, representing 20 different genetic disorders. Relevant characteristics and important clinical signs of each genetic disorder were summarized providing a standardized protocol in the form of a scoring list. The most important clinical sign was a positive family history for PE and/or congenital heart defect. Conclusions Twenty unique genetic disorders have been found associated with PE. We have created a scoring list for the clinician that systematically evaluates crucial clinical signs, thereby facilitating decision making for referral to a clinical geneticist.