Rubinstein-Taybi Syndrome
Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome
... A 30-year-old man presented to our hospital with deve- lopmental delay, recurrent respiratory infections and short stature. Examination showed broad thumbs and hallux, beaked nose and big toes. ...
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Rubinstein-Taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis
... 12. Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, et al. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the ...
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Clinics vol.66 número11
... RUBINSTEIN-TAYBI SYNDROME: A FEMALE PATIENT WITH A DE NOVO RECIPROCAL TRANSLOCATION T(2; 16)(Q36.3; P13.3) AND DYSGRANULOPOIESIS. CASE DESCRIPTION[r] ...
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Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva.
... with Rubinstein-Taybi Syndrome facilitate the diagnosis and are responsible for otolaryngological and phonoaudiological symptoms, like airway infections, nasal obstruction, otitis media, tonsillar ...
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Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso .
... OBJECTIVES: Rubinstein-Taybi syn- drome (RTS) is a genetic disease caused by mutation or dele- tion of chromosome 16, and characterized by growth and mental retardation, clubbing thumbs and toes and ...
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Síndrome Respiratória do Médio Oriente. Infeção pelo novo Coronavírus Middle East Respiratory Syndrome (MERS-CoV) – Normas de Orientação Clínica
... Os doentes em investigação (casos prováveis) ou confirmados devem são internados de acordo com as indicações da Linha de Apoio ao Médico da DGS e, sempre que possível, em qu[r] ...
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Sleep overlap syndrome
... Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA), was first defined by ...overlap syndrome is commonly considered as the ...
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PIRIFORMIS SYNDROME: A REVIEW
... Physiotherapy: Patients with piriformis syndrome are treated with physiotherapy involving a variety of motion exercises and stretching techniques. The goal of physiotherapy is symptom elimination through a ...
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High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups
... Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromo- some 22q11 is associated with DiGeorge syndrome and certain forms of sporadic ...
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Pigment dispersion syndrome
... The purpose of presenting this case is to caution clinicians regarding the possible association of PDS in young myopes with Krukenberg's spindle. Many patients with PDS remain undetected, while those with glaucoma are ...
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Peutz Jeghers syndrome
... Peutz-Jeghers syndrome (PJS) after previous surgical interventions for intestinal ...Peutz-Jeghers syndrome because of the risk of complications related to polyps, and the asso ciation with ...
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Prune Belly syndrome.
... Belly Syndrome is a fetal uropathy of unknown etiology with incidence of 1/35000 to 1/50000 alive been born, characterized by a classical triad: abdominal musculature congenital deficiency, bilateral criptorquidia ...
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ABDOMINAL COCOON SYNDROME
... cocoon syndrome is characterized by encapsulation of the small bowel by a fibrous peritoneal ...cocoon syndrome has variable clinical presentation and non specific imaging ...
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Chromosomal investigations in patients with mental retardation andor congenital malformations
... Down’s syndrome, two of Edward’s syndrome, one of Patau’s syndrome, five of Turner’s syndrome, two of Klinefelter’s syndrome, one of “cri-du-chat” syndrome, one case of a ...
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Rev. Bras. Reumatol. vol.55 número4
... Diagnostic utility of ultrasonography versus nerve conduction studies in mild carpal tunnel syndrome. Carpal tunnel syndrome[r] ...
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Ultrassonografia no diagnóstico da síndrome do túnel do carpo.
... 14. De Campos CC, Manzano GM, De Andrade LB, Castelo Filho A, Nóbrega JA. Translation and validation of an instrument for evaluation of severity of symptoms and the functional status in carpal tunnel syndrome. Arq ...
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Medial Medullary Syndrome
... Difüzyon beyin MRG’de bulbus sa¤ yar›s› medial tara- f›nda difüzyon k›s›tlamas› oluflturan akut iskemi ile uyumlu hipe- rintensite. Resim 4[r] ...
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Zollinger-Ellison syndrome.
... The authors report a 49 years old, female patient who have been operated on several times (antrectomy with Billroth II reconstruction, partial gastrectomy with troncular vagotomy and total gastrectomy) in the last 5 ...
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HEAVY EYE SYNDROME
... 2. Ruter T, Demer JL. Heavy eye syndrome in the absence of high myopia: a connective tissue degeneration in elderly strabismus patients. J AAPOS 2009. [Epub ahead of print] 3. Ejzenbaum F, Goldchmit M, Souza-Dias ...
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Syndrome in question
... MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfill- ing the clinical criteria for Behçet's disease or ...
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