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During a physical examination of the child, the health care provider may notice a tall, thin (Marfanoid) stature with deformity of the chest or scoliosis. If there is poor or double vision, an ophthalmologist should perform a dilated eye exam where dislocation of the lens of the eye or nearsightedness may be observed.
There may be a history of frequent blood clots. Mental retardation, slightly low IQ, or psychiatric disease are common.
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