Marfan syndrome (dolichostenomelia; arachnodactyly; hyperchondroplasia; dystrophia mesodermalis congenita)

General: Hypoplastic form of dystrophia mesodermalis congenita; autosomal dominant; affects both sexes; has been demonstrated that an abnormality of the gene coding for the connective tissue protein fibrillin is responsible for chronic Marfan syndrome.

Ocular: Exotropia; nystagmus; paralysis of accommodation; myopia (axial or lenticular); iridodonesis; miosis; persistent pupillary membrane; blue sclera; spherophakia; lens dislocation; cataract; megalocornea; retinal detachment (less frequently); pigmentary retinopathy; colobomata of macula, iris, optic nerve, and uveal tract (less frequently); keratoconus; central retinal artery occlusion; rhegmatogenous retinal detachment; syringoma.

Clinical: Arachnodactyly; skeletal anomalies; asymmetric thorax; dolichocephaly and high-arched palate; dissecting aneurysm; mitral valve prolapse; prominent ears; kyphoscoliosis; pectus excavatum; flat feet; hammer toes; pulmonary and kidney defects.

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Dietz HC, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337-339.

Marfan AB. Un Cas de Deformation Congenitale des Quatre Members Plus Prononcees aux Extremites Caracterisee par l'Allongement des Os avec un Certain Degre d'Amincissement. Bull Mem Soc Med Hop Pans 1896; 13:220.

Ramsey MS, et al. The Marfan syndrome: a histopathologic study of ocular findings. Am J Ophthalmol 1973; 76: 102.