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Abnormal embryonic development

MedGen UID:
1786483
•Concept ID:
C5539522
•
Congenital Abnormality
HPO: HP:0033334

Definition

An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. [from HPO]

Professional guidelines

PubMed

Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.
Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi K, Breguet M, Arseneau J, Ronnett BM, Hoffner L, Lazure F, Arnaud M, Peers F, Tan L, Rafea BA, Aguinaga M, Horowitz NS, Ao A, Tan SL, Brown R, Buckett W, Surti U, Hovanes K, Sahoo T, Sauthier P, Slim R
Mod Pathol 2020 May;33(5):880-892. Epub 2019 Dec 19 doi: 10.1038/s41379-019-0432-4. PMID: 31857680
Transcervical embryoscopic and cytogenetic findings reveal distinctive differences in primary and secondary recurrent pregnancy loss.
Feichtinger M, Wallner E, Hartmann B, Reiner A, Philipp T
Fertil Steril 2017 Jan;107(1):144-149. Epub 2016 Oct 12 doi: 10.1016/j.fertnstert.2016.09.037. PMID: 27743696
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R
J Med Genet 2014 Sep;51(9):623-34. Epub 2014 Aug 5 doi: 10.1136/jmedgenet-2014-102546. PMID: 25097207

Recent clinical studies

Etiology

Exploring Gene-Diet Interactions for Mother-Child Health: A Systematic Review of Epidemiological Studies.
Favara G, Maugeri A, Magnano San Lio R, Barchitta M, Agodi A
Nutrients 2024 Mar 28;16(7) doi: 10.3390/nu16070994. PMID: 38613027Free PMC Article
CIC missense variants contribute to susceptibility for spina bifida.
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAP, Cabrera RM, Lin YL, Wlodarczyk BJ, Shaw GM, Ross ME, Zhang C, Finnell RH, Lei Y
Hum Mutat 2022 Dec;43(12):2021-2032. Epub 2022 Sep 12 doi: 10.1002/humu.24460. PMID: 36054333Free PMC Article
Abnormal Embryonic Development of Cerebral Arteries as a Potential Cause of Moyamoya Disease.
Tan C, Niu H, Duan R, Shi G, Zhao Y, Chen X, Ye X, Wang R
World Neurosurg 2019 Sep;129:e224-e232. Epub 2019 May 21 doi: 10.1016/j.wneu.2019.05.116. PMID: 31125778
Mature cystic teratoma of the pancreas.
Ben Ameur H, Boujelbene S, Abdelhedi C, Gheriani O, Beyrouti MI
Updates Surg 2012 Dec;64(4):311-4. Epub 2011 Oct 9 doi: 10.1007/s13304-011-0116-1. PMID: 21983876
Loss of an intrinsic capacity for human sperm chromatin decondensation.
Björndahl L, Kvist U
Acta Physiol Scand 1985 Jun;124(2):189-94. doi: 10.1111/j.1748-1716.1985.tb07651.x. PMID: 3925723

Diagnosis

Umbilical cord cysts: Classification, diagnosis, prognosis, and pregnancy recommendations.
Chen H, Jia M, Yang S, Zou J, Xiao X
Int J Gynaecol Obstet 2024 Mar;164(3):823-829. Epub 2023 Jul 24 doi: 10.1002/ijgo.15006. PMID: 37489030
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Mature cystic teratoma of the pancreas.
Ben Ameur H, Boujelbene S, Abdelhedi C, Gheriani O, Beyrouti MI
Updates Surg 2012 Dec;64(4):311-4. Epub 2011 Oct 9 doi: 10.1007/s13304-011-0116-1. PMID: 21983876
Nasal glioma.
Ma KH, Cheung KL
Hong Kong Med J 2006 Dec;12(6):477-9. PMID: 17148805
Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation.
Luo G, Yao MS, Bender CF, Mills M, Bladl AR, Bradley A, Petrini JH
Proc Natl Acad Sci U S A 1999 Jun 22;96(13):7376-81. doi: 10.1073/pnas.96.13.7376. PMID: 10377422Free PMC Article

Therapy

A case of Wilson's disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature.
Zhang L, Zhu L, Ci C, Ai W, Wang Y, Wang X
BMC Neurol 2024 Jan 25;24(1):44. doi: 10.1186/s12883-024-03541-2. PMID: 38273263Free PMC Article
Transcervical embryoscopic and cytogenetic findings reveal distinctive differences in primary and secondary recurrent pregnancy loss.
Feichtinger M, Wallner E, Hartmann B, Reiner A, Philipp T
Fertil Steril 2017 Jan;107(1):144-149. Epub 2016 Oct 12 doi: 10.1016/j.fertnstert.2016.09.037. PMID: 27743696
Characterization of a recurrent poor-quality embryo morphology phenotype and zygote transfer as a rescue strategy.
Sermondade N, Delarouzière V, Ravel C, Berthaut I, Verstraete L, Mathieu E, Antoine JM, Mandelbaum J
Reprod Biomed Online 2012 Apr;24(4):403-9. Epub 2012 Jan 24 doi: 10.1016/j.rbmo.2012.01.004. PMID: 22377150
Comprehending the role of LPS in Gram-negative bacterial vaginosis: ogling into the causes of unfulfilled child-wish.
Deb K, Chaturvedi MM, Jaiswal YK
Arch Gynecol Obstet 2004 Nov;270(3):133-46. Epub 2004 Jun 18 doi: 10.1007/s00404-004-0623-0. PMID: 15221325

Prognosis

Umbilical cord cysts: Classification, diagnosis, prognosis, and pregnancy recommendations.
Chen H, Jia M, Yang S, Zou J, Xiao X
Int J Gynaecol Obstet 2024 Mar;164(3):823-829. Epub 2023 Jul 24 doi: 10.1002/ijgo.15006. PMID: 37489030
Sperm centriolar factors and genetic defects that can predict pregnancy.
Xie P, Kocur OM, Cheung S, Ng L, Albertini DF, Rosenwaks Z, Palermo GD
Fertil Steril 2023 Oct;120(4):720-728. Epub 2023 Jul 22 doi: 10.1016/j.fertnstert.2023.07.007. PMID: 37487819
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children.
He H, Sun F, Ren W, Wang Y, Xu S
J Clin Ultrasound 2016 Oct;44(8):514-7. Epub 2016 Feb 18 doi: 10.1002/jcu.22340. PMID: 26891022
Mature cystic teratoma of the pancreas.
Ben Ameur H, Boujelbene S, Abdelhedi C, Gheriani O, Beyrouti MI
Updates Surg 2012 Dec;64(4):311-4. Epub 2011 Oct 9 doi: 10.1007/s13304-011-0116-1. PMID: 21983876

Clinical prediction guides

Sperm centriolar factors and genetic defects that can predict pregnancy.
Xie P, Kocur OM, Cheung S, Ng L, Albertini DF, Rosenwaks Z, Palermo GD
Fertil Steril 2023 Oct;120(4):720-728. Epub 2023 Jul 22 doi: 10.1016/j.fertnstert.2023.07.007. PMID: 37487819
CIC missense variants contribute to susceptibility for spina bifida.
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAP, Cabrera RM, Lin YL, Wlodarczyk BJ, Shaw GM, Ross ME, Zhang C, Finnell RH, Lei Y
Hum Mutat 2022 Dec;43(12):2021-2032. Epub 2022 Sep 12 doi: 10.1002/humu.24460. PMID: 36054333Free PMC Article
Hypoglycemia and embryonic heart development.
Smoak IW
Front Biosci 2002 Jan 1;7:d307-18. doi: 10.2741/A776. PMID: 11779716
Normal and abnormal embryonic development of the anorectum in human embryos.
Nievelstein RA, van der Werff JF, Verbeek FJ, Valk J, Vermeij-Keers C
Teratology 1998 Feb;57(2):70-8. doi: 10.1002/(SICI)1096-9926(199802)57:2<70::AID-TERA5>3.0.CO;2-A. PMID: 9562679
Loss of an intrinsic capacity for human sperm chromatin decondensation.
Björndahl L, Kvist U
Acta Physiol Scand 1985 Jun;124(2):189-94. doi: 10.1111/j.1748-1716.1985.tb07651.x. PMID: 3925723

Recent systematic reviews

Exploring Gene-Diet Interactions for Mother-Child Health: A Systematic Review of Epidemiological Studies.
Favara G, Maugeri A, Magnano San Lio R, Barchitta M, Agodi A
Nutrients 2024 Mar 28;16(7) doi: 10.3390/nu16070994. PMID: 38613027Free PMC Article

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