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exophthalmos/tyrosine
Il collegamento viene salvato negli appunti
3 risultati
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
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OBJECTIVE
We report a distinctive autosomal recessive multicentric osteolysis in Saudi Arabian families with distal arthropathy of the metacarpal, metatarsal and interphalangeal joints, with ultimate progression to the proximal joints with decreased range of movements and deformities with ankylosis
A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.
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This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis,
Diagnostic approach to diplopia.
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OBJECTIVE
This article offers a pragmatic roadmap to the practicing neurologist on how to approach the patient with double vision. Strategies of history taking and examination techniques are reviewed, followed by a broad overview of the causes of diplopia organized by neuroanatomic localization.
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