U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aplasia/Hypoplasia

MedGen UID:
1715324
Concept ID:
C5235632
Finding

Definition

A finding that generally has features of aplasia and hypoplasia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia

Professional guidelines

PubMed

Wójtowicz A, Respondek-Liberska M, Słodki M, Kordjalik P, Płużańska J, Knafel A, Huras H
Prenat Diagn 2017 Apr;37(4):365-374. Epub 2017 Mar 13 doi: 10.1002/pd.5020. PMID: 28177551
Ferril GR, Nick JA, Getz AE, Barham HP, Saavedra MT, Taylor-Cousar JL, Nichols DP, Curran-Everett D, Kingdom TT, Ramakrishnan VR
Int Forum Allergy Rhinol 2014 Nov;4(11):915-20. Epub 2014 Sep 15 doi: 10.1002/alr.21412. PMID: 25224556
Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB
J Bone Joint Surg Am 2014 Aug 6;96(15):1249-1256. doi: 10.2106/JBJS.M.01257. PMID: 25100771Free PMC Article

Recent clinical studies

Etiology

Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
Sheth J, Shinde A, Kekunnaya R
Strabismus 2022 Sep;30(3):150-158. Epub 2022 Jul 15 doi: 10.1080/09273972.2022.2098989. PMID: 35837867
Cherian SV, Kumar A, Ocazionez D, Estrada-Y-Martin RM, Restrepo CS
Respir Med 2019 Aug;155:86-96. Epub 2019 Jul 11 doi: 10.1016/j.rmed.2019.07.011. PMID: 31326738
Birman CS, Powell HR, Gibson WP, Elliott EJ
Otol Neurotol 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997. PMID: 27050647
Giesemann AM, Kontorinis G, Jan Z, Lenarz T, Lanfermann H, Goetz F
Eur Radiol 2012 Mar;22(3):519-24. Epub 2011 Sep 30 doi: 10.1007/s00330-011-2287-z. PMID: 21960158

Diagnosis

Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
Willems M, Wells CF, Coubes C, Pequignot M, Kuony A, Michon F
Invest Ophthalmol Vis Sci 2022 Aug 2;63(9):3. doi: 10.1167/iovs.63.9.3. PMID: 35925585Free PMC Article
Sheth J, Shinde A, Kekunnaya R
Strabismus 2022 Sep;30(3):150-158. Epub 2022 Jul 15 doi: 10.1080/09273972.2022.2098989. PMID: 35837867
Cherian SV, Kumar A, Ocazionez D, Estrada-Y-Martin RM, Restrepo CS
Respir Med 2019 Aug;155:86-96. Epub 2019 Jul 11 doi: 10.1016/j.rmed.2019.07.011. PMID: 31326738
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944

Therapy

Sheth J, Shinde A, Kekunnaya R
Strabismus 2022 Sep;30(3):150-158. Epub 2022 Jul 15 doi: 10.1080/09273972.2022.2098989. PMID: 35837867
Decraene L, Boudewyns A, Venstermans C, Ceulemans B
Eur J Pediatr 2020 Mar;179(3):367-375. Epub 2020 Jan 27 doi: 10.1007/s00431-019-03484-8. PMID: 31989259
Naganawa S, Kawai H, Sone M, Ikeda M
Magn Reson Med Sci 2015;14(3):203-10. Epub 2015 Mar 31 doi: 10.2463/mrms.2014-0112. PMID: 25833266
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959

Prognosis

Karpeta N, Asp F, Edholm K, Bonnard Å, Wales J, Karltorp E, Duan M, Verrecchia L
Acta Otolaryngol 2023 Oct;143(10):861-866. Epub 2024 Jan 5 doi: 10.1080/00016489.2023.2285453. PMID: 38063358
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982
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
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808

Clinical prediction guides

Karpeta N, Asp F, Edholm K, Bonnard Å, Wales J, Karltorp E, Duan M, Verrecchia L
Acta Otolaryngol 2023 Oct;143(10):861-866. Epub 2024 Jan 5 doi: 10.1080/00016489.2023.2285453. PMID: 38063358
Al Hatmi AS, Al Ajmi E, Albalushi H, Al Lawati M, Sirasanagandla SR
F1000Res 2023;12:71. Epub 2023 Aug 31 doi: 10.12688/f1000research.129498.2. PMID: 37811203Free PMC Article
Birman CS, Powell HR, Gibson WP, Elliott EJ
Otol Neurotol 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997. PMID: 27050647
Dritsoula AK, Thevasagayam MS
Int J Pediatr Otorhinolaryngol 2015 Oct;79(10):1609-12. Epub 2015 Aug 1 doi: 10.1016/j.ijporl.2015.07.031. PMID: 26279246
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944

Recent systematic reviews

Kaplan AB, Kozin ED, Puram SV, Owoc MS, Shah PV, Hight AE, Sethi RKV, Remenschneider AK, Lee DJ
Int J Pediatr Otorhinolaryngol 2015 Mar;79(3):310-315. Epub 2014 Dec 15 doi: 10.1016/j.ijporl.2014.11.023. PMID: 25577282Free PMC Article
Siegel DH, Tefft KA, Kelly T, Johnson C, Metry D, Burrows P, Pope E, Cordisco M, Holland KE, Maheshwari M, Keith P, Garzon M, Hess C, Frieden IJ, Fullerton HJ, Drolet BA
Stroke 2012 Jun;43(6):1672-4. Epub 2012 Mar 22 doi: 10.1161/STROKEAHA.112.650952. PMID: 22442177
Zink WE, Komotar RJ, Meyers PM
J Neuroimaging 2007 Apr;17(2):141-7. doi: 10.1111/j.1552-6569.2007.00092.x. PMID: 17441835

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...