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Aplasia involving bones of the extremities

MedGen UID:
869764
Concept ID:
C4024193
Finding
Synonym: Absent bones of the extremities
 
HPO: HP:0009825

Professional guidelines

PubMed

Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Wang AA, Hutchinson DT
J Pediatr Orthop 2015 Jul-Aug;35(5):474-7. doi: 10.1097/BPO.0000000000000319. PMID: 25264557
Tyson RR, Kaplan GF
Orthop Clin North Am 1975 Apr;6(2):507-19. PMID: 1093095

Recent clinical studies

Etiology

Ishigaki T, Akita S, Udagawa A, Suzuki H, Mitsukawa N
J Orthop Sci 2023 Mar;28(2):426-431. Epub 2021 Dec 16 doi: 10.1016/j.jos.2021.11.013. PMID: 34922808
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Kvernmo HD, Haugstvedt JR
Tidsskr Nor Laegeforen 2013 Aug 20;133(15):1591-5. doi: 10.4045/tidsskr.13.0147. PMID: 23970273
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group
Eur J Hum Genet 2012 Jul;20(7):754-61. Epub 2012 Feb 8 doi: 10.1038/ejhg.2012.6. PMID: 22317977Free PMC Article
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Diagnosis

Zaottini F, Picasso R, Pistoia F, Pansecchi M, Tovt L, Macciò M, Sanguinetti S, Martinoli C
Semin Musculoskelet Radiol 2023 Apr;27(2):169-181. Epub 2023 Apr 3 doi: 10.1055/s-0043-1761953. PMID: 37011618
Xiong G, Yongbin Gao, Zhu J, Guo W, Sun J
J Hand Surg Am 2022 Jun;47(6):579.e1-579.e9. Epub 2021 Jul 17 doi: 10.1016/j.jhsa.2021.06.008. PMID: 34281749
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Toriello HV
Semin Thromb Hemost 2011 Sep;37(6):707-12. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291381. PMID: 22102274

Therapy

Aldekhayel S, Ghanad E, Mudgal CS
J Hand Surg Am 2018 Nov;43(11):1037.e1-1037.e5. Epub 2018 Apr 3 doi: 10.1016/j.jhsa.2018.03.002. PMID: 29625798
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Shin YW, Trehan SK, Uppstrom TJ, Widmann RF, Green DW
J Pediatr Orthop 2018 Aug;38(7):360-364. doi: 10.1097/BPO.0000000000000825. PMID: 27403915
Wang AA, Hutchinson DT
J Pediatr Orthop 2015 Jul-Aug;35(5):474-7. doi: 10.1097/BPO.0000000000000319. PMID: 25264557
Do YS, Park KB, Park HS, Cho SK, Shin SW, Moon JW, Kim DI, Kim YW, Chang IS, Lee SH, Hwang HY, Hwang JH, Choo IW
J Vasc Interv Radiol 2010 Jun;21(6):807-16. Epub 2010 Apr 15 doi: 10.1016/j.jvir.2010.01.035. PMID: 20399111

Prognosis

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Chan KW, Ferkel RD, Kern B, Chan SS, Applegate GR
Cartilage 2018 Jan;9(1):21-29. Epub 2016 Dec 1 doi: 10.1177/1947603516681131. PMID: 29219020Free PMC Article
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
Pritsch T, Ezaki M, Mills J, Oishi SN
J Hand Surg Am 2013 Mar;38(3):453-8. doi: 10.1016/j.jhsa.2012.12.012. PMID: 23428187
Slim FJ, Faber WR, Maas M
Lepr Rev 2009 Dec;80(4):373-87. PMID: 20306636

Clinical prediction guides

Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Bandeira F, Cassibba S
Curr Rheumatol Rep 2015 Jul;17(7):48. doi: 10.1007/s11926-015-0523-2. PMID: 26105042
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article

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