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Multiple metaphyseal dysplasia

MedGen UID:
1842238
Concept ID:
C5681610
Disease or Syndrome
Orphanet: ORPHA93430

Recent clinical studies

Etiology

Hajimoradi M, Haseli S, Abadi A, Chalian M
Skeletal Radiol 2021 Sep;50(9):1749-1762. Epub 2021 Feb 9 doi: 10.1007/s00256-021-03732-9. PMID: 33559685
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Soejima H, Higashimoto K
J Hum Genet 2013 Jul;58(7):402-9. Epub 2013 May 30 doi: 10.1038/jhg.2013.51. PMID: 23719190
Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
J Pediatr Orthop 2008 Sep;28(6):599-606. doi: 10.1097/BPO.0b013e3181831ec8. PMID: 18724194
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Hajimoradi M, Haseli S, Abadi A, Chalian M
Skeletal Radiol 2021 Sep;50(9):1749-1762. Epub 2021 Feb 9 doi: 10.1007/s00256-021-03732-9. PMID: 33559685
Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T
Am J Med Genet A 2014 Oct;164A(10):2529-34. Epub 2014 Jul 10 doi: 10.1002/ajmg.a.36669. PMID: 25044890
Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH
Am J Med Genet A 2013 Nov;161A(11):2762-76. Epub 2013 Oct 3 doi: 10.1002/ajmg.a.36265. PMID: 24123776
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Mennel EA, John SD
Pediatr Radiol 2003 Jan;33(1):11-4. Epub 2002 Sep 18 doi: 10.1007/s00247-002-0806-4. PMID: 12497229

Therapy

Pansombut T, Wikaisuksakul S, Khongkraphan K, Phon-On A
Comput Intell Neurosci 2019;2019:7519603. Epub 2019 Jun 2 doi: 10.1155/2019/7519603. PMID: 31281337Free PMC Article

Prognosis

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Turan S
Bone 2023 Feb;167:116615. Epub 2022 Nov 17 doi: 10.1016/j.bone.2022.116615. PMID: 36402365
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM
Am J Med Genet A 2019 Sep;179(9):1709-1717. Epub 2019 Jun 27 doi: 10.1002/ajmg.a.61267. PMID: 31250547
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571

Clinical prediction guides

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Turan S
Bone 2023 Feb;167:116615. Epub 2022 Nov 17 doi: 10.1016/j.bone.2022.116615. PMID: 36402365
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM
Am J Med Genet A 2019 Sep;179(9):1709-1717. Epub 2019 Jun 27 doi: 10.1002/ajmg.a.61267. PMID: 31250547
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article

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