گزارش يك مورد سندروم مارفان همراه با دفورميتي هاي شديد اسكلتي با توارث اتوزوم مغلوب

A case of Marfan Syndrome with Severe Kyphoscoliosis in Recessive Autosomal from of Inheritance

Background and Objective: Marfan syndrome is known as an autosomal-dominant connective tissue disorder which affects the skeletal. ocular and cardiovascular systems. Case Report: The present case is a 14 year old girl who was sufferring from severe kyphoscoliosis and blindness. She was born as a result of first cousin marriage. Ophthalmic examinations showed left iris c1oboma with subluxation of lens and total retinal detachment of both eyes. Severe pectus excavatum with increasing the crr ratio and severe kyphoscoliosis were noticed. Systolic murmur was heard in the left sternal border. Long slim limbs with long fingers and joint laxity in thumb fingers of both hands were also observed. The ability to join thumb and fifth finger around the wrist (Walker-Murdock sign) and Steinberg thumb sign were both positive. In her family history. three case of Marfan syndrome were diagnosed. Two of them were her cousins. One of her cousins died due to the aortic dissection at 18 years of age and the other was a 2 year old boy who had myopia, mild skeletal deformity, arachnodactyly and mitral valve prolapse. The caseʹs brother also had clinical features like his cousins. Conclusion: The inheritance pattern of Marfan syndrome is recessive autosomic with unusual symptoms such as severe skeletal deformity and blindness.