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Absent vertebra

MedGen UID:
57862
Concept ID:
C0158776
Congenital Abnormality
Synonym: Absent vertebrae
SNOMED CT: Congenital absence of vertebra (15843004); Agenesis of vertebra (1003563001)
 
HPO: HP:0008465

Definition

A developmental defect characterized by agenesis of one or more vertebral bodies. [from HPO]

Conditions with this feature

Femoral hypoplasia - unusual facies syndrome
MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).

Professional guidelines

PubMed

Kuznetsov IA, Tsepilov YA, Freidin MB, Williams FMK, Suri P, Aulchenko YS
Spine J 2023 Aug;23(8):1108-1114. Epub 2023 Apr 18 doi: 10.1016/j.spinee.2023.04.009. PMID: 37080360
Gilligan CJ, Cohen SP, Fischetti VA, Hirsch JA, Czaplewski LG
Spine J 2021 Jun;21(6):903-914. Epub 2021 Feb 19 doi: 10.1016/j.spinee.2021.02.013. PMID: 33610802
Herren C, Jung N, Pishnamaz M, Breuninger M, Siewe J, Sobottke R
Dtsch Arztebl Int 2017 Dec 25;114(51-52):875-882. doi: 10.3238/arztebl.2017.0875. PMID: 29321098Free PMC Article

Recent clinical studies

Etiology

Fox MA, Zsidai B, Dadoo S, Greiner JJ, Musahl V
Arthroscopy 2023 Sep;39(9):1968-1970. doi: 10.1016/j.arthro.2023.03.004. PMID: 37543381
Herren C, Jung N, Pishnamaz M, Breuninger M, Siewe J, Sobottke R
Dtsch Arztebl Int 2017 Dec 25;114(51-52):875-882. doi: 10.3238/arztebl.2017.0875. PMID: 29321098Free PMC Article
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
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Deshmukh SS
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):57-61. PMID: 11129882

Diagnosis

Herren C, Jung N, Pishnamaz M, Breuninger M, Siewe J, Sobottke R
Dtsch Arztebl Int 2017 Dec 25;114(51-52):875-882. doi: 10.3238/arztebl.2017.0875. PMID: 29321098Free PMC Article
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
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Deshmukh SS
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):57-61. PMID: 11129882

Therapy

Wu X, Ban C, Deng W, Bao X, Tang N, Wu Y, Deng Z, Xiong J, Zhao Q
Mol Cancer 2024 Jul 15;23(1):144. doi: 10.1186/s12943-024-02057-0. PMID: 39004737Free PMC Article
Shao B, Chen JS, Kozel OA, Tang OY, Amaral-Nieves N, Sastry RA, Watson-Smith D, Monteagudo J, Luks FI, Carr SR, Klinge PM, Weil RJ, Svokos KA
Neurosurgery 2023 Dec 1;93(6):1374-1382. Epub 2023 Jul 21 doi: 10.1227/neu.0000000000002604. PMID: 37477441
Gilligan CJ, Cohen SP, Fischetti VA, Hirsch JA, Czaplewski LG
Spine J 2021 Jun;21(6):903-914. Epub 2021 Feb 19 doi: 10.1016/j.spinee.2021.02.013. PMID: 33610802
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260

Prognosis

Kuznetsov IA, Tsepilov YA, Freidin MB, Williams FMK, Suri P, Aulchenko YS
Spine J 2023 Aug;23(8):1108-1114. Epub 2023 Apr 18 doi: 10.1016/j.spinee.2023.04.009. PMID: 37080360
Bateson M, Kervadec H, Dolz J, Lombaert H, Ben Ayed I
Med Image Anal 2022 Nov;82:102617. Epub 2022 Sep 16 doi: 10.1016/j.media.2022.102617. PMID: 36228364
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Deshmukh SS
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):57-61. PMID: 11129882

Clinical prediction guides

Kuznetsov IA, Tsepilov YA, Freidin MB, Williams FMK, Suri P, Aulchenko YS
Spine J 2023 Aug;23(8):1108-1114. Epub 2023 Apr 18 doi: 10.1016/j.spinee.2023.04.009. PMID: 37080360
Agarwal S, McMahon DJ, Chen J, Brossfield AV, Fernando J, Bilezikian JP, Cusano NE, Rubin MR
J Bone Miner Res 2023 Apr;38(4):480-492. Epub 2023 Mar 1 doi: 10.1002/jbmr.4780. PMID: 36726204Free PMC Article
Bateson M, Kervadec H, Dolz J, Lombaert H, Ben Ayed I
Med Image Anal 2022 Nov;82:102617. Epub 2022 Sep 16 doi: 10.1016/j.media.2022.102617. PMID: 36228364
Geraldo AF, Luis A, Alves CAPF, Tortora D, Guimarães J, Reimão S, Pavanello M, de Marco P, Scala M, Capra V, Rossi A, Schwartz ES, Mankad K, Severino M
Neuroradiology 2022 Aug;64(8):1671-1679. Epub 2022 Apr 22 doi: 10.1007/s00234-022-02958-1. PMID: 35451625
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

Recent systematic reviews

Mahmoud I, Zarrouk Z, Ben Tekaya A, Ben Salah M, Bouden S, Rouached L, Tekaya R, Saidane O, Abdelmoula L
Eur Spine J 2022 Oct;31(10):2733-2752. Epub 2022 Jul 16 doi: 10.1007/s00586-022-07299-4. PMID: 35841440
Gumaa M, Rehan Youssef A
Phys Ther 2019 Oct 28;99(10):1304-1325. doi: 10.1093/ptj/pzz093. PMID: 31343702
Ferracci FX, Dudoit T, Gilard V, Perez A, Lucas F
Neurochirurgie 2017 Sep;63(4):323-326. Epub 2017 Sep 4 doi: 10.1016/j.neuchi.2017.04.003. PMID: 28882605
Badhiwala JH, Farrokhyar F, Alhazzani W, Yarascavitch B, Aref M, Algird A, Murty N, Kachur E, Cenic A, Reddy K, Almenawer SA
J Neurosurg Spine 2014 Oct;21(4):662-76. Epub 2014 Jul 25 doi: 10.3171/2014.6.SPINE13949. PMID: 25062285
Glotzbecker MP, Riedel MD, Vitale MG, Matsumoto H, Roye DP, Erickson M, Flynn JM, Saiman L
J Pediatr Orthop 2013 Jul-Aug;33(5):479-87. doi: 10.1097/BPO.0b013e318285c507. PMID: 23752143

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