Marfan syndrome - Symptoms and causes - Mayo Clinic - marfan syndrome facial features

Category

marfan syndrome facial features - Marfan syndrome: MedlinePlus Medical Encyclopedia Image


Oct 31, 2010 · The diagnostic value of the facial features of Marfan syndrome Beverlie L. Ting, Deepti Mathur, Bart L. Loeys, Harry C. Dietz, III, and Paul D. Sponseller Department of Orthopaedic Surgery, Johns Hopkins Bayview Medical Center, 4940 Eastern Ave., #A665, Baltimore, MD 21224-2780 USACited by: 8. May 16, 2018 · Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth.

Abstract Purpose We examined the prevalence of known facial features of Marfan syndrome (MFS)—dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures—and the diagnostic utility (sensitivity, specificity, accuracy, predictive values, and likelihood ratios) of using them for screening and diagnosis.Cited by: 8. The diagnostic value of the facial features of Marfan syndrome. Using facial features alone, the accuracy of experienced physicians in identifying individuals with MFS was 73%. Facial features had a 54% sensitivity, a 91% specificity, an 86% positive predictive value (PPV), a 67% negative predictive value (NPV), a 6.9% positive likelihood ratio.

Marfan syndrome is a disorder of the connective tissue. The main function of the connective tissue is that it holds the body together and thus aids in the development growth of the body. Marfan syndrome is heritable, that is, it can be passed on from parents to a child. Marfan syndrome. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.Causes: Genetic (autosomal dominant).

One point can be assigned based upon facial characteristics if the patient shows at least three of these five typical facial characteristics: Dolichocephaly - disproportionately long and narrow head; Downward slanting palpebral fissures - down-slanting of the space between the eyelids; Enophthalmos - recession of the eyeball within the orbit.