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Distal acroosteolysis

MedGen UID:
898288
•Concept ID:
C4229131
•
Finding
Synonym: Distal acro-osteolyses

Professional guidelines

PubMed

Acro-osteolysis: imaging, differential diagnosis, and disposition review.
Bailey CT, Zelaya R, Kayder OO, Cecava ND
Skeletal Radiol 2023 Jan;52(1):9-22. Epub 2022 Aug 15 doi: 10.1007/s00256-022-04145-y. PMID: 35969258
Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist.
Limenis E, Stimec J, Kannu P, Laxer RM
Pediatr Rheumatol Online J 2021 Jul 14;19(1):113. doi: 10.1186/s12969-021-00596-0. PMID: 34261502Free PMC Article
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR
Orphanet J Rare Dis 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. PMID: 31856865Free PMC Article

Recent clinical studies

Diagnosis

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?
Sewairi W, Assiri A, Patel N, Alhashem A, Alkuraya FS
Eur J Hum Genet 2016 Aug;24(8):1220-2. Epub 2016 Jan 6 doi: 10.1038/ejhg.2015.265. PMID: 26733286Free PMC Article

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