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Rhizo-meso-acromelic limb shortening

MedGen UID:
392974
Concept ID:
C2673654
Finding
HPO: HP:0005069

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRhizo-meso-acromelic limb shortening

Conditions with this feature

Spondyloepiphyseal dysplasia, Cantu type
MedGen UID:
435975
Concept ID:
C2673649
Disease or Syndrome
An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.

Professional guidelines

PubMed

Schroeder JD, Turner SP, Buck E
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Recent clinical studies

Etiology

Brijwasi T, Borkar P
J Physiother 2023 Jan;69(1):42-46. Epub 2022 Dec 14 doi: 10.1016/j.jphys.2022.11.011. PMID: 36526555
Rodríguez Sánchez-Laulhé P, Luque-Romero LG, Barrero-García FJ, Biscarri-Carbonero Á, Blanquero J, Suero-Pineda A, Heredia-Rizo AM
JMIR Mhealth Uhealth 2022 Apr 7;10(4):e35462. doi: 10.2196/35462. PMID: 35389367Free PMC Article
Lin C, Liu J, Sun H
PLoS One 2020;15(9):e0239236. Epub 2020 Sep 16 doi: 10.1371/journal.pone.0239236. PMID: 32936828Free PMC Article
Cikajlo I, Peterlin Potisk K
J Neuroeng Rehabil 2019 Oct 17;16(1):119. doi: 10.1186/s12984-019-0601-1. PMID: 31623622Free PMC Article
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098

Diagnosis

Wynes J, Schupp A
Clin Podiatr Med Surg 2022 Jan;39(1):113-127. doi: 10.1016/j.cpm.2021.09.004. PMID: 34809790
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
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Therapy

Brijwasi T, Borkar P
J Physiother 2023 Jan;69(1):42-46. Epub 2022 Dec 14 doi: 10.1016/j.jphys.2022.11.011. PMID: 36526555
Rodríguez Sánchez-Laulhé P, Luque-Romero LG, Barrero-García FJ, Biscarri-Carbonero Á, Blanquero J, Suero-Pineda A, Heredia-Rizo AM
JMIR Mhealth Uhealth 2022 Apr 7;10(4):e35462. doi: 10.2196/35462. PMID: 35389367Free PMC Article
Cikajlo I, Peterlin Potisk K
J Neuroeng Rehabil 2019 Oct 17;16(1):119. doi: 10.1186/s12984-019-0601-1. PMID: 31623622Free PMC Article
Poortmans PMP, Arenas M, Livi L
Breast 2017 Feb;31:295-302. Epub 2016 Aug 10 doi: 10.1016/j.breast.2016.07.022. PMID: 27522160
Bobbert MF, Gerritsen KG, Litjens MC, Van Soest AJ
Med Sci Sports Exerc 1996 Nov;28(11):1402-12. doi: 10.1097/00005768-199611000-00009. PMID: 8933491

Prognosis

Woo J, Yu R, Leung J
J Am Med Dir Assoc 2018 Mar;19(3):223-228. Epub 2017 Nov 1 doi: 10.1016/j.jamda.2017.09.006. PMID: 29079030
Pardiwala DN, Rao NN, Varshney AV
Sports Health 2018 May/Jun;10(3):217-222. Epub 2017 Oct 3 doi: 10.1177/1941738117732318. PMID: 28972820Free PMC Article
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688
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Clinical prediction guides

Rodríguez Sánchez-Laulhé P, Luque-Romero LG, Barrero-García FJ, Biscarri-Carbonero Á, Blanquero J, Suero-Pineda A, Heredia-Rizo AM
JMIR Mhealth Uhealth 2022 Apr 7;10(4):e35462. doi: 10.2196/35462. PMID: 35389367Free PMC Article
Bardin T, Nguyen QD, Hieu NL, Tran KM, Dalbeth N, Do MD, Ea HK, Richette P, Resche-Rigon M, Bousson V
Semin Arthritis Rheum 2022 Apr;53:151981. Epub 2022 Feb 10 doi: 10.1016/j.semarthrit.2022.151981. PMID: 35183934
Cikajlo I, Peterlin Potisk K
J Neuroeng Rehabil 2019 Oct 17;16(1):119. doi: 10.1186/s12984-019-0601-1. PMID: 31623622Free PMC Article
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Franchignoni F, Vercelli S, Giordano A, Sartorio F, Bravini E, Ferriero G
J Orthop Sports Phys Ther 2014 Jan;44(1):30-9. Epub 2013 Oct 30 doi: 10.2519/jospt.2014.4893. PMID: 24175606

Recent systematic reviews

Spanhove V, Van Daele M, Van den Abeele A, Rombaut L, Castelein B, Calders P, Malfait F, Cools A, De Wandele I
Ann Phys Rehabil Med 2021 Jan;64(1):101457. Epub 2020 Nov 28 doi: 10.1016/j.rehab.2020.10.008. PMID: 33221471
Angelini A, Baracco R, Dolci A, Vigo M, Mavrogenis AF, Ruggieri P
Eur J Orthop Surg Traumatol 2020 Dec;30(8):1325-1332. Epub 2020 Jun 4 doi: 10.1007/s00590-020-02692-5. PMID: 32500348
Lädermann A, Edwards TB, Walch G
Int Orthop 2014 May;38(5):991-1000. Epub 2013 Nov 23 doi: 10.1007/s00264-013-2175-z. PMID: 24271331Free PMC Article
Peach G, Schep G, Palfreeman R, Beard JD, Thompson MM, Hinchliffe RJ
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Handoll HH, Parker MJ
Cochrane Database Syst Rev 2008 Jul 16;(3):CD000337. doi: 10.1002/14651858.CD000337.pub2. PMID: 18646065

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