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Proximal tibial hypoplasia

MedGen UID:
341040
Concept ID:
C1856029
Finding
Synonym: Proximal tibial hypopolasia
 
HPO: HP:0006379

Conditions with this feature

Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.

Professional guidelines

PubMed

Perrotta FM, Astorri D, Zappia M, Reginelli A, Brunese L, Lubrano E
Rheumatol Int 2016 Nov;36(11):1579-1583. Epub 2016 Sep 6 doi: 10.1007/s00296-016-3562-8. PMID: 27600991
Tawfik EA, El Zohiery AK, Abouelela AA
Arch Phys Med Rehabil 2016 Jul;97(7):1093-9. Epub 2015 Dec 17 doi: 10.1016/j.apmr.2015.11.012. PMID: 26705883
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360

Recent clinical studies

Etiology

Fowler EG, Eckardt JJ, Vuong A, Greenberg MB, Yamaguchi K, Bukata SV, Bernthal N
Gait Posture 2021 Jul;88:167-173. Epub 2021 May 27 doi: 10.1016/j.gaitpost.2021.05.026. PMID: 34098401
Fürmetz J, Patzler S, Wolf F, Degen N, Prall WC, Soo C, Böcker W, Thaller PH
BMC Musculoskelet Disord 2020 Mar 31;21(1):201. doi: 10.1186/s12891-020-03232-2. PMID: 32234018Free PMC Article
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Yammine K
Anat Sci Int 2015 Jun;90(3):144-60. Epub 2014 May 7 doi: 10.1007/s12565-014-0239-9. PMID: 24801385

Diagnosis

Lum ZC, Saiz AM, Pereira GC, Meehan JP
J Am Acad Orthop Surg 2020 Apr 15;28(8):316-323. doi: 10.5435/JAAOS-D-19-00422. PMID: 31934927
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Lesić AR, Bumbasirević M, Sudjić VS, Mitković MM, Tulić GDz, Ivancević N, Jakovljević A, Bajec DD
Acta Chir Iugosl 2010;57(4):39-45. doi: 10.2298/aci1004039l. PMID: 21446216
Colvin AC, West RV
J Bone Joint Surg Am 2008 Dec;90(12):2751-62. doi: 10.2106/JBJS.H.00211. PMID: 19047722
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Therapy

Braun S, Brenneis M, Holder J, Meurer A, Stief F
J Orthop Surg Res 2023 Jan 27;18(1):69. doi: 10.1186/s13018-023-03552-8. PMID: 36707864Free PMC Article
Alazawi S, Hendriksz T
J Osteopath Med 2021 Oct 11;122(1):45-53. doi: 10.1515/jom-2021-0108. PMID: 34626532
Bayam L, Erdem M, Gülabi D, Erdem AC, Uyar AÇ, Kochai A
Acta Orthop Traumatol Turc 2020 Jan;54(1):89-96. doi: 10.5152/j.aott.2020.01.130. PMID: 32175902Free PMC Article
Lum ZC, Saiz AM, Pereira GC, Meehan JP
J Am Acad Orthop Surg 2020 Apr 15;28(8):316-323. doi: 10.5435/JAAOS-D-19-00422. PMID: 31934927
Marti RK, Kerkhoffs GM, Rademakers MV
Oper Orthop Traumatol 2007 Mar;19(1):101-13. doi: 10.1007/s00064-007-1197-3. PMID: 17345029

Prognosis

Aksoy T, Bakircioglu S, Ozdemir E, Ramazanov R, Aksoy MC, Yilmaz G
J Pediatr Orthop 2023 Aug 1;43(7):e567-e573. Epub 2023 May 10 doi: 10.1097/BPO.0000000000002429. PMID: 37168006
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Okuyama S, Nishimura S, Takahashi Y, Kubota K, Hirano T, Kazama K, Tomii M, Matsuyama J, Mizuno J, Matsushima T, Sato M, Watanabe K
J Neurosurg 2018 Sep 7;131(3):750-756. doi: 10.3171/2018.4.JNS171784. PMID: 30192190
Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N
Diagn Interv Imaging 2015 Sep;96(9):901-14. Epub 2015 Apr 24 doi: 10.1016/j.diii.2014.08.008. PMID: 25920687
Fouilleron N, Marchetti E, Autissier G, Gougeon F, Migaud H, Girard J
Orthop Traumatol Surg Res 2010 Nov;96(7):785-92. Epub 2010 Sep 28 doi: 10.1016/j.otsr.2010.04.008. PMID: 20880768

Clinical prediction guides

Fowler EG, Eckardt JJ, Vuong A, Greenberg MB, Yamaguchi K, Bukata SV, Bernthal N
Gait Posture 2021 Jul;88:167-173. Epub 2021 May 27 doi: 10.1016/j.gaitpost.2021.05.026. PMID: 34098401
Fürmetz J, Patzler S, Wolf F, Degen N, Prall WC, Soo C, Böcker W, Thaller PH
BMC Musculoskelet Disord 2020 Mar 31;21(1):201. doi: 10.1186/s12891-020-03232-2. PMID: 32234018Free PMC Article
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Recent systematic reviews

Galán-Olleros M, Miranda-Gorozarri C, Rey-Cañas R, Alonso-Hernández J, Azorín-Cuadrillero D, Palazón-Quevedo Á
JBJS Case Connect 2024 Jan 1;14(1) Epub 2024 Mar 7 doi: 10.2106/JBJS.CC.23.00496. PMID: 38452160
Berthaume MA, Bull AMJ
Clin Anat 2021 Jul;34(5):810-820. Epub 2021 May 4 doi: 10.1002/ca.23743. PMID: 33905585
Migliorini F, Rath B, Tingart M, Niewiera M, Eschweiler J
Eur J Orthop Surg Traumatol 2019 Oct;29(7):1579-1588. Epub 2019 May 23 doi: 10.1007/s00590-019-02451-1. PMID: 31123829
Yammine K
Anat Sci Int 2015 Jun;90(3):144-60. Epub 2014 May 7 doi: 10.1007/s12565-014-0239-9. PMID: 24801385

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