THE syndrome first described by Marfan (1896) is not a common condition, only 350 cases having so far been reported. Marfan noted the skeletal abnormalities in a 51-year-old girl and called the condition dolicho-stenomelia; he described the fingers and toes as spider-like, but did not mention any ocular anomaly.The clinical features of the syndrome, as at present understood, are as follows:Skeletal Defects.-In most cases the skull is dolichocephalic. The limbs are exceedingly long and slender. There is not only a real increase in the length of the extremities as compared with those of normal children of the same age but a relative increase in comparison with the weight. The span between the tips of the middle fingers with arms extended often exceeds the height, and this is one of the typical aberrations.The metacarpal bones and phalanges show an increase in length which in some cases is relatively greater in the terminal phalanges, giving to the fingers the delicate spider-like appearance described in Marfan's first case. The feet are also elongated because of the long and slender metatarsal bones and toes.A funnel-shaped chest is quite common, but the pigeon-breasted type with narrowness and flattening of the chest wall is often seen. Some degree of kyphosis and scoliosis and laxity of the joints and ligaments, especially at the elbows, fingers, and knees, contribute to the usual appearance.General Defects.-The muscular and subcutaneous tissue is poorly developed, giving an emaciated appearance which accentuates the already unnaturally long extremities. The face is prematurely aged, with a melancholic or pained expression.
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