Abstract
The authors describe a family, father and two sisters, suffering from spondylo-epiphyseal dysplasia. The disease is an autosomal dominant; genetic counseling depends on an exact diagnosis. The two sisters show some atypical features, which confirm the disease heterogeneity.
MeSH terms
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Adult
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Child
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Child, Preschool
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Female
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Follow-Up Studies
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Growth Disorders / etiology
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Humans
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Male
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Osteochondrodysplasias / complications
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Osteochondrodysplasias / diagnostic imaging
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Osteochondrodysplasias / genetics*
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Osteochondrodysplasias / pathology
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Radiography