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

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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… Click to show full abstract

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

Keywords: deletion zmpste24; novel frame; zmpste24 associated; frame deletion; type; associated autosomal

Journal Title: Clinical Dysmorphology
Year Published: 2018

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