| Main clinical features
|
severe, connective-tissue disease including cutis laxa, bone fragility, vascular tortuosity and aneurysm, developmental emphysema, and diaphragmatic and inguinal hernia, long fingers, aortic aneurysm, tortuous pulmonary arteries and mild generalized lax skin
disease of elastic tissue proteins resulting in a broad spectrum of phenotypes affecting skin, skeleton, ocular and vascular structures, with early death
often asssociated withmicrocephaly, overgrowth and arachnodactyly |