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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.
See: Condition Record
Spondyloepiphyseal dysplasia, Cantu type

Professional guidelines

PubMed

Hip Fractures: Diagnosis and Management.
Schroeder JD, Turner SP, Buck E
Am Fam Physician 2022 Dec;106(6):675-683. PMID: 36521464
Evaluation and treatment of disorders of the infrapatellar fat pad.
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697
Guillain-Barré syndrome: epidemiology, pathophysiology and management.
Kuwabara S
Drugs 2004;64(6):597-610. doi: 10.2165/00003495-200464060-00003. PMID: 15018590

Recent clinical studies

Etiology

A comprehensive exercise program improves foot alignment in people with flexible flat foot: a randomised trial.
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
An Exercise and Educational and Self-management Program Delivered With a Smartphone App (CareHand) in Adults With Rheumatoid Arthritis of the Hands: Randomized Controlled Trial.
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
Risk factors for lower extremity amputation in patients with diabetic foot ulcers: A meta-analysis.
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
Advantages of using 3D virtual reality based training in persons with Parkinson's disease: a parallel study.
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
Achondroplasia: Really rhizomelic?
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

Achondroplasia: Really rhizomelic?
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
Congenital fibular deficiency.
Hamdy RC, Makhdom AM, Saran N, Birch J
J Am Acad Orthop Surg 2014 Apr;22(4):246-55. doi: 10.5435/JAAOS-22-04-246. PMID: 24668354
Lesser toe deformities.
Shirzad K, Kiesau CD, DeOrio JK, Parekh SG
J Am Acad Orthop Surg 2011 Aug;19(8):505-14. doi: 10.5435/00124635-201108000-00006. PMID: 21807918
Robinow syndrome.
Patton MA, Afzal AR
J Med Genet 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. PMID: 12011143Free PMC Article
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Therapy

A comprehensive exercise program improves foot alignment in people with flexible flat foot: a randomised trial.
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
An Exercise and Educational and Self-management Program Delivered With a Smartphone App (CareHand) in Adults With Rheumatoid Arthritis of the Hands: Randomized Controlled Trial.
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
Advantages of using 3D virtual reality based training in persons with Parkinson's disease: a parallel study.
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
Over-irradiation.
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
Why is countermovement jump height greater than squat jump height?
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

Simultaneous femoral and tibial lengthening for severe limb length discrepancy in fibular hemimelia.
Ghaly HM, El-Rosasy MA, Marei AE, El-Gebaly OA
J Orthop Surg Res 2023 Nov 8;18(1):844. doi: 10.1186/s13018-023-04229-y. PMID: 37936235Free PMC Article
Radial shortening, bone grafting and vascular pedicle implantation versus radial shortening alone in Kienböck's disease.
Said E, Addosooki A, Assaghir Y, Ahmed A, Tammam H
J Hand Surg Eur Vol 2021 Jun;46(5):516-522. Epub 2021 Feb 18 doi: 10.1177/1753193421993730. PMID: 33601946
A 3-Item SARC-F.
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
Injuries in Cricket.
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
Mesomelic skeletal dysplasias.
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Clinical prediction guides

An Exercise and Educational and Self-management Program Delivered With a Smartphone App (CareHand) in Adults With Rheumatoid Arthritis of the Hands: Randomized Controlled Trial.
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
The shrinking toe sign in gout.
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
Advantages of using 3D virtual reality based training in persons with Parkinson's disease: a parallel study.
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
Achondroplasia: Really rhizomelic?
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
Minimal clinically important difference of the disabilities of the arm, shoulder and hand outcome measure (DASH) and its shortened version (QuickDASH).
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

Acupuncture combined with repeated transcranial magnetic stimulation for upper limb motor function after stroke: A systematic review and meta-analysis.
Xie Y, Pan J, Chen J, Zhang D, Jin S
NeuroRehabilitation 2023;53(4):423-438. doi: 10.3233/NRE-230144. PMID: 38143390
Malnutrition Following One-Anastomosis Gastric Bypass: a Systematic Review.
Bandlamudi N, Holt G, Graham Y, O'Kane M, Singhal R, Parmar C, Sakran N, Mahawar K, Pouwels S, Potluri S, Madhok B
Obes Surg 2023 Dec;33(12):4137-4146. Epub 2023 Nov 2 doi: 10.1007/s11695-023-06907-6. PMID: 37917389
Muscle activity and scapular kinematics in individuals with multidirectional shoulder instability: A systematic review.
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
Limb lengthening for deformities in Ollier's disease: a systematic review.
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
Effects of contracture on gait kinematics: A systematic review.
Attias M, Chevalley O, Bonnefoy-Mazure A, De Coulon G, Cheze L, Armand S
Clin Biomech (Bristol) 2016 Mar;33:103-110. Epub 2016 Mar 2 doi: 10.1016/j.clinbiomech.2016.02.017. PMID: 26970702

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