A newborn with wrinkly skin: what is the diagnosis? | Article

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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.