Marfan's syndrome is a heritable disorder of the connective tissue, transmitted by a dominant gene, which is not sex-linked. Many variations of this syndrome have been observed. The complete picture shows most of the following abnormalities:
In the skeleton: Dolichocephaly, arachnodactyly, highly arched palate, scoliosis, pigeon breast or pectus excavatum, spina bifida, pes planum or highly arched feet, double row of teeth.
In the eyes: Ectopia lentis, shallow anterior chambers, iridodonesis (frequent tremor of the eyes), retinal detachment.
In the cardiovascular system: Aneurysms of the aorta, including dissecting aneurysms, valvular and septal defects, coarctation of the aorta, dissecting aneurysms of other major vessels, including pulmonary artery, aneurysm of the sinuses of Valsalva, and ruptured aortic cusps.
Hernias and hypermobility of the joints are frequent.
The pediatric literature1-3 contains descriptions of many congenital malformations of the heart and large vessels, including septal defects and coarctation of the aorta, associated with
ATTA AG, HOCH J. Marfan's Syndrome and Dissecting Aneurysm of Aorta. Arch Intern Med. 1961;108(5):781–788. doi:10.1001/archinte.1961.03620110121016
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