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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.
See: Condition Record
Hydrolethalus syndrome 1

Professional guidelines

PubMed

Proposed Sonographic Criteria for the Diagnosis of Idiopathic Tarsal Tunnel Syndrome.
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
Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.
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
Radiographic followup of joints injected with triamcinolone hexacetonide for the management of childhood arthritis.
Sparling M, Malleson P, Wood B, Petty R
Arthritis Rheum 1990 Jun;33(6):821-6. doi: 10.1002/art.1780330608. PMID: 2363737

Recent clinical studies

Etiology

Focal Fibrocartilaginous Dysplasia and Growth Arrest: Case Report.
Adhiyaman A, Tracey OC, Nagra K, Zucker CP, Wisch JL, Jones RH, Fabricant PD, Heyer JH, Widmann RF, Doyle SM
JBJS Case Connect 2024 Oct 1;14(4) Epub 2024 Oct 11 doi: 10.2106/JBJS.CC.24.00174. PMID: 39729616
Distal alignment procedures for patellofemoral instability: comprehensive review of the literature.
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
Blount disease.
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
Endoscopic-assisted epiphysiodesis: technique and 20-year experience.
Ledesma JB, Wang T, Desmond E, Imrie M, Gamble JG, Rinsky LA
J Pediatr Orthop B 2016 Jan;25(1):24-30. doi: 10.1097/BPB.0000000000000230. PMID: 26462167
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.
Argo KM, Toriello HV, Jelsema RD, Zuidema LJ
Ultrasound Obstet Gynecol 1996 Nov;8(5):350-4. doi: 10.1046/j.1469-0705.1996.08050350.x. PMID: 8978012

Diagnosis

Blount disease.
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
Blount disease: an update.
Sabharwal S
Orthop Clin North Am 2015 Jan;46(1):37-47. Epub 2014 Oct 12 doi: 10.1016/j.ocl.2014.09.002. PMID: 25435033
Limb-sparing surgery for distal femoral and proximal tibial bone lesions: imaging findings with intraoperative correlation.
Chakarun CJ, Learch TJ, White EA, Menendez LR, Brien EW, Matcuk GR, Patel DB
AJR Am J Roentgenol 2013 Feb;200(2):W193-203. doi: 10.2214/AJR.11.8042. PMID: 23345384
Spinal Charcot-Marie-Tooth disease: a reappraisal.
Devic P, Petiot P, Mauguière F
Muscle Nerve 2012 Oct;46(4):604-9. doi: 10.1002/mus.23456. PMID: 22987707
Patellar instability.
Colvin AC, West RV
J Bone Joint Surg Am 2008 Dec;90(12):2751-62. doi: 10.2106/JBJS.H.00211. PMID: 19047722

Therapy

Patella Baja in Total Knee Arthroplasty.
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
Distal alignment procedures for patellofemoral instability: comprehensive review of the literature.
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
Scurvy: a rare case in an adult.
Joshi R, Gustas-French CN, Fanburg-Smith JC, Helm KF, Flemming D
Skeletal Radiol 2019 Jun;48(6):977-984. Epub 2018 Sep 26 doi: 10.1007/s00256-018-3069-3. PMID: 30259130
Medial patellofemoral ligament reconstruction in children: do osseous abnormalities matter?
Pesenti S, Ollivier M, Escudier JC, Cermolacce M, Baud A, Launay F, Jouve JL, Choufani E
Int Orthop 2018 Jun;42(6):1357-1362. Epub 2018 Jan 4 doi: 10.1007/s00264-017-3750-5. PMID: 29299655
Results of screw epiphysiodesis for the treatment of limb length discrepancy and angular deformity.
Khoury JG, Tavares JO, McConnell S, Zeiders G, Sanders JO
J Pediatr Orthop 2007 Sep;27(6):623-8. doi: 10.1097/BPO.0b013e318093f4f4. PMID: 17717460

Prognosis

Blount disease.
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
Endoscopic-assisted epiphysiodesis: technique and 20-year experience.
Ledesma JB, Wang T, Desmond E, Imrie M, Gamble JG, Rinsky LA
J Pediatr Orthop B 2016 Jan;25(1):24-30. doi: 10.1097/BPB.0000000000000230. PMID: 26462167
Focal dome osteotomy for the correction of tibial deformity in children.
Dilawaiz Nadeem R, Quick TJ, Eastwood DM
J Pediatr Orthop B 2005 Sep;14(5):340-6. doi: 10.1097/01202412-200509000-00006. PMID: 16093945
Tibia valga due to focal fibrocartilaginous dysplasia: case report.
Santos M, Valente E, Almada A, Neves J
J Pediatr Orthop B 2002 Apr;11(2):167-71. doi: 10.1097/00009957-200204000-00015. PMID: 11943993
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.
Argo KM, Toriello HV, Jelsema RD, Zuidema LJ
Ultrasound Obstet Gynecol 1996 Nov;8(5):350-4. doi: 10.1046/j.1469-0705.1996.08050350.x. PMID: 8978012

Clinical prediction guides

Focal Fibrocartilaginous Dysplasia and Growth Arrest: Case Report.
Adhiyaman A, Tracey OC, Nagra K, Zucker CP, Wisch JL, Jones RH, Fabricant PD, Heyer JH, Widmann RF, Doyle SM
JBJS Case Connect 2024 Oct 1;14(4) Epub 2024 Oct 11 doi: 10.2106/JBJS.CC.24.00174. PMID: 39729616
Distal alignment procedures for patellofemoral instability: comprehensive review of the literature.
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
Blount disease.
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
Medial patellofemoral ligament reconstruction in children: do osseous abnormalities matter?
Pesenti S, Ollivier M, Escudier JC, Cermolacce M, Baud A, Launay F, Jouve JL, Choufani E
Int Orthop 2018 Jun;42(6):1357-1362. Epub 2018 Jan 4 doi: 10.1007/s00264-017-3750-5. PMID: 29299655
Natural history of infantile tibia vara.
Shinohara Y, Kamegaya M, Kuniyoshi K, Moriya H
J Bone Joint Surg Br 2002 Mar;84(2):263-8. doi: 10.1302/0301-620x.84b2.11821. PMID: 11922370

Recent systematic reviews

Hexapod Frame Correction of Proximal Tibial Recurvatum Caused Indirectly by a Femoral Aneurysmal Bone Cyst in an Adolescent: A Case Report and Systematic Review.
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
Cyamella (a popliteal sesamoid bone) prevalence: A systematic review, meta-analysis, and proposed classification system.
Berthaume MA, Bull AMJ
Clin Anat 2021 Jul;34(5):810-820. Epub 2021 May 4 doi: 10.1002/ca.23743. PMID: 33905585
Distal alignment procedures for patellofemoral instability: comprehensive review of the literature.
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
The sesamoids of the feet in humans: a systematic review and meta-analysis.
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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