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Agenesis of the corpus callosum, partial or complete

MedGen UID:
387787
•Concept ID:
C1857278
•
Congenital Abnormality
Synonyms: Agenesis of corpus callosum, partial or complete; Partial or complete agenesis of corpus callosum; Partial or complete agenesis of the corpus callosum; Partial to complete agenesis of corpus callosum; Partial-total agenesis of corpus callosum

Professional guidelines

PubMed

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Pomar L, Ochoa J, Cabet S, Huisman TAGM, Paladini D, Klaritsch P, Galmiche A, Prayer F, Gacio S, Haratz K, Malinger G, Van Mieghem T, Baud D, Bromley B, Lebon S, Dubruc E, Vial Y, Guibaud L
Prenat Diagn 2022 Apr;42(4):484-494. Epub 2022 Jan 10 doi: 10.1002/pd.6085. PMID: 34984691Free PMC Article

Recent clinical studies

Etiology

Outcome of partial agenesis of corpus callosum.
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
Am J Hum Genet 2020 Dec 3;107(6):1170-1177. Epub 2020 Nov 23 doi: 10.1016/j.ajhg.2020.11.001. PMID: 33232677Free PMC Article
Completion of the human papillomavirus vaccine series among insured females between 2006 and 2009.
Hirth JM, Tan A, Wilkinson GS, Berenson AB
Cancer 2012 Nov 15;118(22):5623-9. Epub 2012 Apr 27 doi: 10.1002/cncr.27598. PMID: 22544681Free PMC Article
Naked suicide.
Simon RI
J Am Acad Psychiatry Law 2008;36(2):240-5. PMID: 18583702

Diagnosis

Outcome of partial agenesis of corpus callosum.
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Clinical Challenge.
Aust Fam Physician 2016 Dec;45(12):931-932. PMID: 27903046
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855
Corpus callosum and epilepsies.
Unterberger I, Bauer R, Walser G, Bauer G
Seizure 2016 Apr;37:55-60. Epub 2016 Mar 3 doi: 10.1016/j.seizure.2016.02.012. PMID: 27010176

Therapy

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.
Mustafa HJ, Barbera JP, Sambatur EV, Pagani G, Yaron Y, Baptiste CD, Wapner RJ, Brewer CJ, Khalil A
Ultrasound Obstet Gynecol 2024 Mar;63(3):312-320. doi: 10.1002/uog.27440. PMID: 37519216
When should matching be used in the design of cluster randomized trials?
Chondros P, Ukoumunne OC, Gunn JM, Carlin JB
Stat Med 2021 Nov 20;40(26):5765-5778. Epub 2021 Aug 14 doi: 10.1002/sim.9152. PMID: 34390264
Assessing the quality of randomization methods in randomized control trials.
Lai D, Wang D, McGillivray M, Baajour S, Raja AS, He S
Healthc (Amst) 2021 Dec;9(4):100570. Epub 2021 Jul 31 doi: 10.1016/j.hjdsi.2021.100570. PMID: 34343852
A Review of Perspectives on the Use of Randomization in Phase II Oncology Trials.
Grayling MJ, Dimairo M, Mander AP, Jaki TF
J Natl Cancer Inst 2019 Dec 1;111(12):1255-1262. doi: 10.1093/jnci/djz126. PMID: 31218346Free PMC Article
SPIRIT 2013 explanation and elaboration: guidance for protocols of clinical trials.
Chan AW, Tetzlaff JM, Gøtzsche PC, Altman DG, Mann H, Berlin JA, Dickersin K, Hróbjartsson A, Schulz KF, Parulekar WR, Krleza-Jeric K, Laupacis A, Moher D
BMJ 2013 Jan 8;346:e7586. doi: 10.1136/bmj.e7586. PMID: 23303884Free PMC Article

Prognosis

Retrospective analysis of the prognostic factors of fetal corpus callosum dysplasia.
Huang R, Chen J, Hou X, Liu L, Sun G, Pan H, Ma Y
BMC Pregnancy Childbirth 2024 Feb 1;24(1):101. doi: 10.1186/s12884-024-06300-w. PMID: 38302905Free PMC Article
Outcome of partial agenesis of corpus callosum.
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
The diagnosis of the middle interhemispheric variant of holoprosencephaly with fetal MRI.
Garrido Márquez I, Fernández Navarro L, Moya Sánchez E
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):375-378. doi: 10.1016/j.rxeng.2022.07.001. PMID: 36030084
Effect of screening by clinical breast examination on breast cancer incidence and mortality after 20 years: prospective, cluster randomised controlled trial in Mumbai.
Mittra I, Mishra GA, Dikshit RP, Gupta S, Kulkarni VY, Shaikh HKA, Shastri SS, Hawaldar R, Gupta S, Pramesh CS, Badwe RA
BMJ 2021 Feb 24;372:n256. doi: 10.1136/bmj.n256. PMID: 33627312Free PMC Article
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2012-2016.
Ostrom QT, Cioffi G, Gittleman H, Patil N, Waite K, Kruchko C, Barnholtz-Sloan JS
Neuro Oncol 2019 Nov 1;21(Suppl 5):v1-v100. doi: 10.1093/neuonc/noz150. PMID: 31675094Free PMC Article

Clinical prediction guides

Retrospective analysis of the prognostic factors of fetal corpus callosum dysplasia.
Huang R, Chen J, Hou X, Liu L, Sun G, Pan H, Ma Y
BMC Pregnancy Childbirth 2024 Feb 1;24(1):101. doi: 10.1186/s12884-024-06300-w. PMID: 38302905Free PMC Article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C
Prenat Diagn 2023 Jun;43(6):746-755. Epub 2023 May 23 doi: 10.1002/pd.6382. PMID: 37173814
Ultrasound-based deep learning radiomics in the assessment of pathological complete response to neoadjuvant chemotherapy in locally advanced breast cancer.
Jiang M, Li CL, Luo XM, Chuan ZR, Lv WZ, Li X, Cui XW, Dietrich CF
Eur J Cancer 2021 Apr;147:95-105. Epub 2021 Feb 24 doi: 10.1016/j.ejca.2021.01.028. PMID: 33639324
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855
The amputee mobility predictor: an instrument to assess determinants of the lower-limb amputee's ability to ambulate.
Gailey RS, Roach KE, Applegate EB, Cho B, Cunniffe B, Licht S, Maguire M, Nash MS
Arch Phys Med Rehabil 2002 May;83(5):613-27. doi: 10.1053/apmr.2002.32309. PMID: 11994800

Recent systematic reviews

Clinical Practice Guidelines for Early Mobilization in the ICU: A Systematic Review.
Lang JK, Paykel MS, Haines KJ, Hodgson CL
Crit Care Med 2020 Nov;48(11):e1121-e1128. doi: 10.1097/CCM.0000000000004574. PMID: 32947470
Leadership styles and outcome patterns for the nursing workforce and work environment: A systematic review.
Cummings GG, Tate K, Lee S, Wong CA, Paananen T, Micaroni SPM, Chatterjee GE
Int J Nurs Stud 2018 Sep;85:19-60. Epub 2018 May 3 doi: 10.1016/j.ijnurstu.2018.04.016. PMID: 29807190
The complete digital workflow in fixed prosthodontics: a systematic review.
Joda T, Zarone F, Ferrari M
BMC Oral Health 2017 Sep 19;17(1):124. doi: 10.1186/s12903-017-0415-0. PMID: 28927393Free PMC Article
The probability of spontaneous regression of lumbar herniated disc: a systematic review.
Chiu CC, Chuang TY, Chang KH, Wu CH, Lin PW, Hsu WY
Clin Rehabil 2015 Feb;29(2):184-95. Epub 2014 Jul 9 doi: 10.1177/0269215514540919. PMID: 25009200
Suicide prevention strategies: a systematic review.
Mann JJ, Apter A, Bertolote J, Beautrais A, Currier D, Haas A, Hegerl U, Lonnqvist J, Malone K, Marusic A, Mehlum L, Patton G, Phillips M, Rutz W, Rihmer Z, Schmidtke A, Shaffer D, Silverman M, Takahashi Y, Varnik A, Wasserman D, Yip P, Hendin H
JAMA 2005 Oct 26;294(16):2064-74. doi: 10.1001/jama.294.16.2064. PMID: 16249421

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