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Brachydactyly-syndactyly-oligodactyly syndrome(BDSDO)

MedGen UID:
934774
Concept ID:
C4310807
Disease or Syndrome
Synonym: BDSDO
 
Monarch Initiative: MONDO:0800344
OMIM®: 142989; 610713

Professional guidelines

PubMed

Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685Free PMC Article
Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

Recent clinical studies

Etiology

Romanowska-Próchnicka K, Dziewit M, Lesiak A, Reich A, Olesińska M
Front Immunol 2024;15:1351675. Epub 2024 Jun 3 doi: 10.3389/fimmu.2024.1351675. PMID: 38887288Free PMC Article
Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
Has C, He Y
Cell Tissue Res 2017 Jul;369(1):63-73. Epub 2017 Apr 22 doi: 10.1007/s00441-017-2623-y. PMID: 28432467
Poh TY, Mac Aogáin M, Chan AK, Yii AC, Yong VF, Tiew PY, Koh MS, Chotirmall SH
Expert Rev Respir Med 2017 Apr;11(4):285-298. Epub 2017 Mar 24 doi: 10.1080/17476348.2017.1305895. PMID: 28282995

Diagnosis

Romanowska-Próchnicka K, Dziewit M, Lesiak A, Reich A, Olesińska M
Front Immunol 2024;15:1351675. Epub 2024 Jun 3 doi: 10.3389/fimmu.2024.1351675. PMID: 38887288Free PMC Article
Tibesar RJ, Scott AR
Facial Plast Surg Clin North Am 2024 Feb;32(1):141-156. Epub 2023 Aug 23 doi: 10.1016/j.fsc.2023.07.002. PMID: 37981410
Klein SD, Nisbet A, Kalish JM
Curr Opin Pediatr 2023 Dec 1;35(6):620-630. Epub 2023 Oct 4 doi: 10.1097/MOP.0000000000001298. PMID: 37791807Free PMC Article
Koster MJ, Samec MJ, Warrington KJ
J Clin Rheumatol 2023 Sep 1;29(6):298-306. Epub 2022 Oct 17 doi: 10.1097/RHU.0000000000001905. PMID: 36251488
Meier-Schiesser B, French LE
J Dtsch Dermatol Ges 2021 Mar;19(3):400-426. Epub 2021 Feb 23 doi: 10.1111/ddg.14332. PMID: 33620111

Therapy

Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
Lessel D, Kubisch C
Dtsch Arztebl Int 2019 Jul 22;116(29-30):489-496. doi: 10.3238/arztebl.2019.0489. PMID: 31452499Free PMC Article
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Dharawat R, Saadat M
Acta Med Acad 2016 Nov;45(2):169-170. doi: 10.5644/ama2006-124.174. PMID: 28000494
Mangera A, Chapple CR, Kopp ZS, Plested M
Nat Rev Urol 2011 Jul 5;8(9):495-503. doi: 10.1038/nrurol.2011.99. PMID: 21727941

Prognosis

Cristescu Teodor R, Mihaltan FD
Rom J Ophthalmol 2019 Jan-Mar;63(1):2-9. PMID: 31198891Free PMC Article
Sinha S, Schwartz RA
J Am Acad Dermatol 2007 Sep;57(3):502-8. Epub 2007 Jun 25 doi: 10.1016/j.jaad.2006.08.016. PMID: 17592743
Tsai TT, Nienaber CA, Eagle KA
Circulation 2005 Dec 13;112(24):3802-13. doi: 10.1161/CIRCULATIONAHA.105.534198. PMID: 16344407
Dulac O
Curr Opin Neurol 1994 Apr;7(2):102-6. doi: 10.1097/00019052-199404000-00005. PMID: 8019656
Fryns JP, Van den Berghe H
J Genet Hum 1981 Dec;29(4):449-53. PMID: 7328419

Clinical prediction guides

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
Gallentine WB, Mikati MA
J Clin Neurophysiol 2012 Oct;29(5):408-19. doi: 10.1097/WNP.0b013e31826bd92a. PMID: 23027098
Frolkis VV
Gerontology 1992;38(1-2):80-6. doi: 10.1159/000213310. PMID: 1612465

Recent systematic reviews

Sales C, Calma AD
Clin Neurol Neurosurg 2022 Feb;213:107120. Epub 2022 Jan 10 doi: 10.1016/j.clineuro.2022.107120. PMID: 35074686
Nisi M, Izzetti R, Gennai S, Pucci A, Lenzi C, Graziani F
J Craniofac Surg 2022 May 1;33(3):830-834. Epub 2021 Jul 30 doi: 10.1097/SCS.0000000000008054. PMID: 34334749
De Stefano R, Bruno A, Muscatello MR, Cedro C, Cervino G, Fiorillo L
Minerva Stomatol 2019 Dec;68(6):317-331. doi: 10.23736/S0026-4970.19.04288-2. PMID: 32052621
Ahn KH, Park YJ, Hong SC, Lee EH, Lee JS, Oh MJ, Kim HJ
J Obstet Gynaecol 2016 Jul;36(5):563-6. Epub 2016 Mar 10 doi: 10.3109/01443615.2015.1127905. PMID: 26965725
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article

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