A young, tall, thin male with archnodactyly has ectopia lentis in both eyes. The most likely diagnosis is -
Ans. is 'a' i.e., Marfan's syndrome It is a case of Marfan's syndrome.Marfan's syndrome is characterized by clinical trial of.Long thin extremeties frequently associated with other skeletal changes such as loose joint and arachnodactyly.Reduced vision as a result of dislocation of the lens (ectopia lends).Aortic Aneurysm that typically begins at the base of Aorta. More about Marfan's syndrome: Skeletal abnormalities.Patient is unusually tall Fingers and hands are long and slender and have spider like appearance (arachnodactyly).Because the lower segment of the body largely contributes the tall stature, theUpper segment (usually 2SD below mean for lower segment a8e, race and sex)Severe chest deformities, pectus excavatum, pectus carinatum.Scoliosis accompanied by kyphosisHigh arched palate and high pedal arches or pes planusJoint ligaments in hands and feet are lax.Head is commonly dolichocephalicCardiovascular changesMitral valve prolapse can give rise to mitral regurgitationDilatation of ascending aorta owing to cystic medial necrosis (loss of medial support results in progressive dilatation of aortic valve ring and the root of the aorta giving rise to severe aortic incompetence)Occular changesBilateral subluxation or dislocation of the lens referred to as ectopia lens.Ocular globe is frequently elongated.Associated changesSpontaneous pneumothoraxInguinal and incisional hernias.Genetics of Marfan's syndromeMarfan's syndrome results from inherited defect in an extracellular glycoprotein called fibrillin-1 (located on chromosome is)Autosomal dominant inheritanceCongenital contracture arachnodactyly is a variant of Marfan's syndrome and is associated with fibrillin-2
Marfan's Syndrome
Marchesani's Syndrome
Homocystinuria
Ehler's Danlos syndrome
Disorder of Metabolism & Connective Tissue