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A mother, son, and daughter are presented, in whom serial photographs document an insidious and late onset of exorbitism and midfacial retrusion consistent with a diagnosis of familial nonsyndromic craniosynostosis. Papilledema was found in the 4.5-year-old daughter because of increased intracranial pressure secondary to a reduction in cranial vault size, whereas optic nerve sheath swelling on CT scan was found in the son.
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Cohen et al. (1993) studied this question.
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