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Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia

MedGen UID:
985032
Concept ID:
CN301226
Disease or Syndrome

Professional guidelines

PubMed

Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997Free PMC Article
Ibrahim S, Labelle H, Mac-Thiong JM
Spine J 2015 Jun 1;15(6):e29-34. Epub 2013 Oct 4 doi: 10.1016/j.spinee.2013.08.057. PMID: 24291408

Recent clinical studies

Etiology

Pihlström S, Richardt S, Määttä K, Pekkinen M, Olkkonen VM, Mäkitie O, Mäkitie RE
Front Endocrinol (Lausanne) 2023;14:1224318. Epub 2023 Oct 11 doi: 10.3389/fendo.2023.1224318. PMID: 37886644Free PMC Article
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG
Eur J Med Genet 2022 Aug;65(8):104541. Epub 2022 Jun 16 doi: 10.1016/j.ejmg.2022.104541. PMID: 35718083
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
Am J Hum Genet 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019. PMID: 29100092Free PMC Article
Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):190-204. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31335. PMID: 22791502
Turell M, Morrison S, Traboulsi EI
Ophthalmic Genet 2010 Mar;31(1):12-7. doi: 10.3109/13816810903397812. PMID: 20141353

Diagnosis

Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG
Eur J Med Genet 2022 Aug;65(8):104541. Epub 2022 Jun 16 doi: 10.1016/j.ejmg.2022.104541. PMID: 35718083
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF
Am J Med Genet A 2021 Apr;185(4):1228-1235. Epub 2021 Jan 13 doi: 10.1002/ajmg.a.62072. PMID: 33439541
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC
Am J Med Genet A 2017 Mar;173(3):733-739. Epub 2016 Nov 26 doi: 10.1002/ajmg.a.38059. PMID: 27888646Free PMC Article
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Therapy

Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997Free PMC Article
Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O
Rheumatol Int 2020 Nov;40(11):1903-1910. Epub 2020 Jul 20 doi: 10.1007/s00296-020-04653-x. PMID: 32691099Free PMC Article
Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S
J Med Genet 2010 Oct;47(10):704-9. Epub 2010 Jun 24 doi: 10.1136/jmg.2009.075358. PMID: 20577006
Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE
Am J Med Genet 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525. PMID: 1481828

Prognosis

Gregorczyk M, Pastore G, Muñoz I, Carroll T, Streubel J, Munro M, Lis P, Lange S, Lamoliatte F, Macartney T, Toth R, Brown F, Hastie J, Pereira G, Durocher D, Rouse J
Life Sci Alliance 2023 Jul;6(7) Epub 2023 May 15 doi: 10.26508/lsa.202201740. PMID: 37188479Free PMC Article
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF
Am J Med Genet A 2021 Apr;185(4):1228-1235. Epub 2021 Jan 13 doi: 10.1002/ajmg.a.62072. PMID: 33439541
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Neurogenetics 2017 Dec;18(4):185-194. Epub 2017 Aug 26 doi: 10.1007/s10048-017-0520-x. PMID: 28842795Free PMC Article
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Gregorczyk M, Pastore G, Muñoz I, Carroll T, Streubel J, Munro M, Lis P, Lange S, Lamoliatte F, Macartney T, Toth R, Brown F, Hastie J, Pereira G, Durocher D, Rouse J
Life Sci Alliance 2023 Jul;6(7) Epub 2023 May 15 doi: 10.26508/lsa.202201740. PMID: 37188479Free PMC Article
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997Free PMC Article
Kotschi S, Jung A, Willemsen N, Ofoghi A, Proneth B, Conrad M, Bartelt A
Mol Metab 2022 Mar;57:101436. Epub 2022 Jan 6 doi: 10.1016/j.molmet.2022.101436. PMID: 34999280Free PMC Article
Sait H, Gangadharan H, Gupta A, Aggarwal A, Jain M, Phadke SR
Indian J Pediatr 2021 Aug;88(8):819-823. Epub 2021 Mar 13 doi: 10.1007/s12098-020-03636-x. PMID: 33712926
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Neurogenetics 2017 Dec;18(4):185-194. Epub 2017 Aug 26 doi: 10.1007/s10048-017-0520-x. PMID: 28842795Free PMC Article

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