Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The eye symptoms in dysostosis craniofacialis Crouzon can be divided into obligate and facultative signs; the latter are nystagmus, megalocornea, coloboma of the iris, corectopia, ectopia of the lens and cataract. There is no causal relationship between these symptoms and the dysostosis craniofacialis. The common eye findings in this disease use proptosis, divergent strabism, hypertelorism with dystopia canthi lateralis as well as in about 80% an atrophy of the optic nerve. It is considered until now that the premature synostosis of cranial sutures is the leading and only pathogenetical factor in this disease. This theory can no longer be sustained because of its inability to explain the above mentionned eye findings. We want to stress on a malformation of the prosencephalic head organisator leading to a dyschondroplasia that mainly affects the base of the skull. This frontal dysplasia causes a characteristic displacement of the building materials and thereby produces the common eye findings in this disease.
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PMID:[The development of eye symptoms in dysostosis craniofacialis Crouzon--a contribution to pathogenesis (author's transl)]. 719 65