释义 |
cutis laxa autosomal recessive type 2B cutis laxa autosomal recessive type 2B A multisystem, autosomal recessive condition (OMIM:612940) characterised by premature ageing, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphia, intrauterine growth retardation with postnatal growth retardation, and developmental delay. |