Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia
作者： Rodney K. Beals , Richard G. Weleber
DOI: 10.1002/AJMG.A.30289
关键词: Eye disease 、 Muscle contracture 、 Restrictive lung disease 、 Arthrogryposis 、 Abnormality 、 Contracture 、 Anatomy 、 Medicine 、 Peripheral 、 Ptosis
摘要: A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some ptosis. Restrictive lung disease a feature in most patients this family. It possible that syndrome may be due to muscle abnormality.
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