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Acroosteolysis dominant type

MedGen UID:
419682
•Concept ID:
C2930971
•
Disease or Syndrome

Recent clinical studies

Etiology

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD
Orphanet J Rare Dis 2018 Apr 4;13(1):47. doi: 10.1186/s13023-018-0795-5. PMID: 29618366Free PMC Article

Diagnosis

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM Jr, Roé E, Baselga E
Am J Med Genet A 2022 Apr;188(4):1233-1238. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62603. PMID: 34894066
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

Therapy

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM Jr, Roé E, Baselga E
Am J Med Genet A 2022 Apr;188(4):1233-1238. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62603. PMID: 34894066

Prognosis

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD
Orphanet J Rare Dis 2018 Apr 4;13(1):47. doi: 10.1186/s13023-018-0795-5. PMID: 29618366Free PMC Article
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome.
Vollersen N, Hermans-Borgmeyer I, Cornils K, Fehse B, Rolvien T, Triviai I, Jeschke A, Oheim R, Amling M, Schinke T, Yorgan TA
J Bone Miner Res 2018 Jan;33(1):70-83. Epub 2017 Sep 20 doi: 10.1002/jbmr.3283. PMID: 28856714
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.
Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M
Osteoporos Int 2013 Aug;24(8):2275-81. Epub 2013 Feb 7 doi: 10.1007/s00198-013-2298-5. PMID: 23389697Free PMC Article

Clinical prediction guides

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM Jr, Roé E, Baselga E
Am J Med Genet A 2022 Apr;188(4):1233-1238. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62603. PMID: 34894066
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD
Orphanet J Rare Dis 2018 Apr 4;13(1):47. doi: 10.1186/s13023-018-0795-5. PMID: 29618366Free PMC Article
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome.
Vollersen N, Hermans-Borgmeyer I, Cornils K, Fehse B, Rolvien T, Triviai I, Jeschke A, Oheim R, Amling M, Schinke T, Yorgan TA
J Bone Miner Res 2018 Jan;33(1):70-83. Epub 2017 Sep 20 doi: 10.1002/jbmr.3283. PMID: 28856714
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.
Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M
Osteoporos Int 2013 Aug;24(8):2275-81. Epub 2013 Feb 7 doi: 10.1007/s00198-013-2298-5. PMID: 23389697Free PMC Article
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y
J Clin Endocrinol Metab 2009 Dec;94(12):4971-83. Epub 2009 Oct 29 doi: 10.1210/jc.2009-0472. PMID: 19875478Free PMC Article

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