cutis laxa autosomal recessive type 2B

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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.