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Keywords
geroderma osteodysplasticum; cutis laxa; GORAB gene; heritable disorders of connective tissue
Key points
- Geroderma osteodysplasticum, cutis laxa and wrinkly skin syndrome are rare conditions that may be confused with Ehlers-Danlos syndromes.
- Defining the disease phenotype for these disorders is challenging because of overlapping presentations and clinical course.
- Careful clinical examination and genetic evaluation are important in differentiating rare conditions with similar clinical features.
