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Mostrando ítems 61-70 de 36241
Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
(1997-10-17)
Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- ...
Tricho-rhino-phalangeal syndrome: first brazilian case
(MEDFARMA-EDICOES MEDICAS, LDA, 2009)
Thrico-rhino-falangeal syndrome is a rare genetic disease characterized by the presence of typical alterations with a long, bulbous nose, hair alterations, a long flat philtrum, and one-shaped epiphyses of the phalanges. ...
The 5q-syndrome and autoimmune phenomena: Report of three cases
(Elsevier B.V., 2006-04-01)
Myelodysplastic syndrome is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis, peripheral cytopenias and an additional risk to evolve to acute leukemia in up to 30% of the cases. Autoimmune ...
Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis A case report with eight years follow-up
(2014)
Nevoid basal cell carcinoma (NBCCS) or Gorlin-Goltz syndrome (GS) is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the ...
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
(2021-01-01)
Chudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities ...
Fruit dispersal syndromes in animal disseminated plants at Tinigua National Park, Colombia
(Sociedad de Biología de Chile, 2004)
Unilateral Facial Paralysis Caused by Ramsay Hunt Syndrome
(Lippincott Williams & Wilkins, 2013)
Salivary cortisol among subjects with and without Cushing Syndrome Determinación de los niveles de cortisol salival en una muestra de sujetos de Santiago de Chile
(2010)
Background: Salivary cortisol measurement is recommended as a screening measure when a Cushing Syndrome is suspected. The proposed cut-off point for a probable diagnosis is 0.16 ug/dL. Aim: To determine salivary cortisol ...
Goldenhar Syndrome and full inclusionSíndrome de Goldenhar e a educação inclusiva
(Universidade Federal de Santa Maria, 2014)