Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature

Cutis laxa is a set of genetically heterogeneous conditions with phenotypes ranging from progeria-like appearance, corneal clouding, clenched fingers with marked retardation of growth both pre and postnatal growth to very mild phenotypes with skin laxity becoming evident in 2nd or 3rd decade. A child who presents with predominant motor delay is written off with a clinical diagnosis of rickets in the absence of any clinical sign of lax skin. Here, we report a 2-year-old child who presented with motor delay and joint hyperlaxity. Mutation analysis demonstrated a heterozygous mutationc.G1867A in the exon 15 of ALDH18A1 gene known to cause autosomal dominant cutis laxa.