[ case of marfan syndrome with severe kyphoscoliosis in recessive autosomal from of inheritance]

ABSTRACT

Marfan syndrome is known as an autosomal-dominant connective tissue disorder which affects the skeletal, ocular and cardiovascular systems. The present case is a 14 year old girl who was suffering from severe hyphoscoliosis and blindness. She was born as a result of first cousin marriage. Ophthalmic examinations showed left iris cloboma with subluxation of lens and total retinal detachment of both eyes. Severe pectus excavatum with increasing the C/T ratio and severe 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 case's brother also had clinical features like his cousins. The inheritance pattern of Marfan syndrome is recessive autosomic with unusual symptoms such as severe skeletal deformity and blindness