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

The significance of a prenatal diagnosis of right aortic arch.
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
Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes.
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
Soft-Tissue Abnormalities Associated with Treatment-Resistant and Treatment-Responsive Clubfoot: Findings of MRI Analysis.
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

Congenital anomalies of inferior rectus and its surgical outcomes.
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
Developmental lung anomalies in adults: A pictorial review.
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
Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia.
Birman CS, Powell HR, Gibson WP, Elliott EJ
Otol Neurotol 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997. PMID: 27050647
Auditory brainstem implant candidacy in the United States in children 0-17 years old.
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
The vestibulocochlear nerve: aplasia and hypoplasia in combination with inner ear malformations.
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

Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.
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
Congenital anomalies of inferior rectus and its surgical outcomes.
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
Congenital aplasia/hypoplasia of the Epiglottis-A case report and a review of the literature.
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
Update in mortality in GH-treated patients.
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

Therapy

Congenital anomalies of inferior rectus and its surgical outcomes.
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
Ratio of Vestibular Endolymph in Patients with Isolated Lateral Semicircular Canal Dysplasia.
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
Update in mortality in GH-treated patients.
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
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
Analysis of physical and mental development of children with aplasia, hypoplasia and ectopy of the thyroid gland.
Pniewska-Siark B, Jeziorowska A, Bobeff I, Lewiński A
Endocr Regul 2006 Mar;40(1):7-14. PMID: 16964962

Prognosis

Developmental unilateral facial palsy in a newborn: six cases and literature review.
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
Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.
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
Imaging features of lower limb malformations above the foot.
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
Update in mortality in GH-treated patients.
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944
Disorders of thyroid gland in India.
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808

Clinical prediction guides

Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.
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
Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia.
Birman CS, Powell HR, Gibson WP, Elliott EJ
Otol Neurotol 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997. PMID: 27050647
Congenital aplasia/hypoplasia of the Epiglottis-A case report and a review of the literature.
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
Update in mortality in GH-treated patients.
Erfurth EM
J Clin Endocrinol Metab 2013 Nov;98(11):4219-26. Epub 2013 Sep 12 doi: 10.1210/jc.2013-2415. PMID: 24030944
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

Recent systematic reviews

Auditory brainstem implant candidacy in the United States in children 0-17 years old.
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
Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature.
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
Internal carotid aplasia/hypoplasia and intracranial saccular aneurysms: series of three new cases and systematic review of the literature.
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.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...