De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets.

Cutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of < 1 in 1,000,000 individuals. In addition to the distinctive cutaneous manifestations, cutis laxa can present with a constellation of other features, including progeroid appearance, growth retardation, and developmental delays.