IT IS generally agreed that the Marfan syndrome is a heritable disorder of connective tissue characterized by widespread malformations affecting the musculoskeletal, cardiovascular, and ocular systems. It was first described by Marfan in 1896 under the name of dolichostenomelie.' In 1902 Archard presented a case and called the syndrome arachnodactyly.2 Thus, the musculoskeletal malformations we...

IT IS generally agreed that the Marfan syndrome is a heritable disorder of connective tissue characterized by widespread malformations affecting the musculoskeletal, cardiovascular, and ocular systems. It was first described by Marfan in 1896 under the name of dolichostenomelie.' In 1902 Archard presented a case and called the syndrome arachnodactyly.2 Thus, the musculoskeletal malformations we...

Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.

We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus.

Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder. Pediatrics 2013;132:e1059–e1072

Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder. Pediatrics 2013;132:e1059–e1072

We report a case of newly developed aortic dissection after aorta cannulation during mitral valve surgery in a patient with Marfan syndrome. An unexpected fatal complication of cardiac surgery detected on postoperative imaging survey in Marfan syndrome patient and its surgical finding are described.

A 39 year old man with Marfan syndrome presented with multiple pulmonary emboli and renal, hepatic, and splenic infarcts of unknown aetiology. The combination of thromboemboli and physical features initially suggested homocystinuria; however, laboratory examination showed no evidence for this disorder. Laboratory evaluation identified no coagulation abnormalities. This patient represents the un...

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 ex...

Randolph T, eds. Harrison’s Principles of Internal Medicine, 14th edn. New York: McGraw-Hill, 1998: 2183–2194. 2. Hobbs WR, Sponseller PD, Weiss APC, Pyeritz RE. The cervical spine in Marfan syndrome. Spine 1997; 22: 983–989. 3. Herzka A, Sponseller PD, Pyeritz RE. Atlantoaxial rotatory subluxation in patients with Marfan syndrome. Spine 2000; 25: 524–525. 4. Place HH, Enzenauer RJ. Cervical sp...