Abnormal Development - Unknown
|Embryology - 21 Mar 2018 Expand to Translate|
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How and why do things go wrong in development?
These unknown causes may be caused by either or genetic or environmental, but we do not understand the mechanism. This forms a very large group of abnormalities that we as yet do not yet know how they occur, the relevance paradox.
There are many different ways that developmental abnormalities can occur the 3 major types are Genetic (inherited), Environmental (maternal) and Unknown (not determined) derived abnormalities. There are many developmental abnormalities today through determined research and clinical observation, that are known to be genetic or environmental that in the past would have been described as "unknown". Note that genetic and environmental effects can also interact and it is this and the group now classified as "unknown causes" that require further research to place them in one of the two other real categories.
The environmental factors that cause or lead to any of these abnormalities are described as teratogens, and as the world develops many new chemicals and drugs even with testing it is difficult to easily identify the likelihood that they may represent a teratogen.
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Diana MacKay, Anna Nordenström, Henrik Falhammar Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. J. Clin. Endocrinol. Metab.: 2018; PubMed 29554355
Muhammad Sohail Umerani, Hira Burhan, Salman Sharif, Tauqir Ul Islam, Mehak Hafiz Ghaziani Orbital Meningoencephalocele and Pulsatile Proptosis: A Rare Entity. Cureus: 2018, 10(1);e2064 PubMed 29552427
M McGowan, M K Holland, G Boe-Hansen Review: Ontology and endocrinology of the reproductive system of bulls from fetus to maturity. Animal: 2018;1-8 PubMed 29551096
Maria Pefkianaki, Adele Schneider, Jenina E Capasso, Barry Wasserman, Tanya Bardakjian, Alex V Levin Ocular manifestations of PACS1 mutation. J AAPOS: 2018; PubMed 29550517
Dorit Schöller, Marieke Hölting, Diana Stefanescu, Helen Burow, Birgitt Schönfisch, Katharina Rall, Florin-Andrei Taran, Grigoris F Grimbizis, Attilio Di Spiezio Sardo, Sara Y Brucker Female genital tract congenital malformations and the applicability of the ESHRE/ESGE classification: a systematic retrospective analysis of 920 patients. Arch. Gynecol. Obstet.: 2018; PubMed 29549434
Prenatal diagnosis are the clinical tools used to determine both normal and abnormal development. There are a growing number of new diagnostic techniques that are being applied to human embryonic development. Tests that occur after birth are described in Neonatal Diagnosis.
|Diagnosis Links: Prenatal Diagnosis | Pregnancy Test | Amniocentesis | Chorionic villus sampling | Ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis|
Australia - Top 10
|Congenital Anomalies in Australia 2002-2003|
| Congenital anomalies in Australia 2002-2003 was published in 2008 as part a new revised series on 33 selected congenital anomalies also monitored internationally by the International Clearinghouse of Birth Defects Surveillance and Research.
|External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.|
The ten most frequently reported birth defects in Victoria between 2003-2004.
- Obstructive Defects of the Renal Pelvis or Obstructive Genitourinary Defects
- Ventricular Septal Defect
- Congenital Dislocated Hip
- Trisomy 21 or Down syndrome
- Cleft Palate
- Trisomy 18 or Edward Syndrome - multiple abnormalities of the heart, diaphragm, lungs, kidneys, ureters and palate 86% discontinued.
- Renal Agenesis/Dysgenesis - reduction in neonatal death and stillbirth since 1993 may be due to the more severe cases being identified in utero and being represented amongst the increased proportion of terminations (approximately 31%).
- Cleft Lip and Palate - occur with another defect in 33.7% of cases.
USA - Selected
- Abeywardana S & Sullivan EA 2008. Congenital anomalies in Australia 2002–2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.
Search Pubmed: Cardiovascular System Development
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Cite this page: Hill, M.A. (2018, March 21) Embryology Abnormal Development - Unknown. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Unknown
- © Dr Mark Hill 2018, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G