Abstract
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.
MeSH terms
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Bone and Bones / abnormalities
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Bone and Bones / diagnostic imaging
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Child, Preschool
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Female
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Follow-Up Studies
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Growth Disorders / diagnosis*
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Growth Disorders / genetics
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Humans
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Infant
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Infant, Newborn
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Lung Diseases / etiology
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Microstomia / diagnosis*
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Microstomia / genetics
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Myotonia / diagnosis*
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Myotonia / genetics
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Osteochondrodysplasias / complications
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Osteochondrodysplasias / diagnosis*
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Osteochondrodysplasias / diagnostic imaging
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Osteochondrodysplasias / genetics
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Radiography
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Syndrome