نتایج جستجو برای: bifid uvula
تعداد نتایج: 1243 فیلتر نتایج به سال:
Seventeen-year-old female patient was evaluated with the complaint of pit-shaped injury located in semi lower lip mucosa, since birth, and there was no salivary secretion. During the intra oral examination, bifid uvula was noted, others mucous membranes showed normal aspects of coloration and texture and teeth were in excellent conditions of hygiene and conservation. It was asymptomatic and the...
BACKGROUND The present paper describes the oral manifestations in a 16-year-old boy previously diagnosed with Apert syndrome. PATIENT AND METHODS The extraoral and intraoral pathological findings were recorded. The following intraoral parameters were recorded: plaque and calculus deposits, dental caries, periodontal status, malpositions, and occlusion. For the upper anterior teeth, dental sha...
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor β (TGFβ)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism, bifid uvula/cleft palate and aortic aneurysm and/or arterial tortuosity. LDS is caused by heterozygous loss of function mutations in the genes encod...
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuo...
Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotili...
To cite: Mohan RPS, Verma S, Singh A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-008664 DESCRIPTION A 57-year-old man reported to the outpatient department with the chief compliant of deformed upper lip which was present since birth. He denied any complaints other than cosmetic ones. On examination, an extra fold of redundant tissue was present o...
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. ...
In 129 electrocardiograms from 129 patients showing bifid T waves as well as U waves the intervals from the beginning of the QRS complex to the two T wave apices (QaT1, QaT2), to the end of the T wave (QeT), and to the apex of the U wave (QaU) were measured. Eighty additional electrocardiograms from matched control subjects showing single peaked T waves were also studied. The precordial distrib...
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