Arachnodactyly and Positive Thumb Sign. These are signs of Marfan syndrome. The long thin fingers are notable and the tip of the thumb extends beyond the fifth finger when bent into the palm of the hand.
Marfan syndrome, a systemic connective tissue disease, has an autosomal dominant pattern of inheritance. It is characterized by skeletal (long, thin limbs, arachnodactyly, pectus excavatum), ocular (lens dislocation/subluxation), and cardiovascular (dilated aortic root, aortic aneurysms, aortic dissections, valve prolapse) abnormalities. Affected individuals are often tall, of extremely slender build, and with an arm span that exceeds their height.
Patients of all ages require echocardiography at least annually to monitor aortic diameter and mitral valve function. Beta-blockers can slow the heart rate and decrease blood pressure, which will slow the progression of aortic root dilation.
Family members of affected individuals should also be screened because of the autosomal dominant pattern of inheritance.
Photo and explanation courtesy of: DeGowin’s Diagnostic Examination and Current Medical Dx and Rx.
Arachnodactyly and Positive Thumb Sign. These are signs of Marfan syndrome. The long thin fingers are notable and the tip of the thumb extends beyond the fifth finger when bent into the palm of the hand.
ReplyDeleteMarfan syndrome, a systemic connective tissue disease, has an autosomal dominant pattern of inheritance. It is characterized by skeletal (long, thin limbs, arachnodactyly, pectus excavatum), ocular (lens dislocation/subluxation), and cardiovascular (dilated aortic root, aortic aneurysms, aortic dissections, valve prolapse) abnormalities. Affected individuals are often tall, of extremely slender build, and with an arm span that exceeds their height.
Patients of all ages require echocardiography at least annually to monitor aortic diameter and mitral valve function. Beta-blockers can slow the heart rate and decrease blood pressure, which will slow the progression of aortic root dilation.
Family members of affected individuals should also be screened because of the autosomal dominant pattern of inheritance.
Photo and explanation courtesy of: DeGowin’s Diagnostic Examination and Current Medical Dx and Rx.