| Main clinical features
|
association of flat facial profile, deafness, cataract and myopia, osteopenia, risk of arterial rupture, skin blistering , joint contracture and fracture
skin appeared to be thin and poorly perfused but with no significant abnormalities of healing or scarring; hair described as coarse in texture and rapidly growing with an unusual distribution (thick over the vertex and sparse at the hairline); nails were hypoplastic, although the small, dysplastic fingernails were described as “rapidly-growing with brittle tips |