ESPE Abstracts

Acromelic dysplasia is a rare inherited bone dysplasia with 2 subtypes acromicric and gelophysic dysplasia. The prevalence is estimated <1/1 000 000, This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations characterised by growth drawfism, disproportionate short hands and feet, mild facial abnormalities, and characteristic x ray bones abnormalities. The condition appered to be s...