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The clinical features include redundant, sagging, fragile skin, delayed closure of the fontanelles, blue sclerae, umbilical hernia and short stature.24 Most patients have a very severe phenotype presenting at birth, but some have milder manifestations.25 Electron microscopy of skin shows characteristic hieroglyphic fibrils.26 The diagnosis is confirmed through genetic testing of ADAMTS2

Deficiency can lead to cognitive issues