A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family

List of key featuresGottron type acrogeriaCutaneous atrophyFailure of growthAcro-osteolysisWormian bonesMandibular hypoplasiaOsteolysis of the claviclesCardiac sudden deathIntroductionAcrogeria (OMIM#201200) belongs to a heterogeneous group of premature aging syndromes (Gottron, 1940). The main char