Cutis laxa з тяжкими легеневими, шлунково-кишковими та сечовими аномаліями

Визначення(English summary)

A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).