A young, tall, thin, male with arachnodactyly have ectopia lentis in both eyes. The most likely diagnosis is
Marfan's syndrome
Marchesani's syndrome
Homocystinuria
Ehler's danlos syndrome
Arachnodactyly and ectopia lentis (dislocation of the lens) in tall thin male suggests Marfan&;s Syndrome.It is a genetic disorder of the connective tissue of the bodyMutation in the fibrillary gene(15 q 21.1)Loss of fibrillary fiber base for deposition of elastinAlteration in connective tissue in various pas of the bodySkeletal changes:Patients are usually tall and have long limbsThe ratio of upper segment to lower segment is usually 2 SDs below the mean for age, race, and sexArachnodactyly(fingers are long and slender, spider-like)Pectus excavatum, pectus carinatumScoliosis, kyphosisCardiovascular changes:Mitral valve prolapse, mitral regurgitationAoic aneurysm, aoic regurgitationOcular changes:Ectopia lentisMyopia (due to elongation of the globe)Retinal detachmentOthers:Spontaneous pneumothoraxInguinal and incisional herniasStriae over the shoulders and buttocksRef:Harrison's 18/e p3212, 17/e p2468-2469
All India exam