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Abnormalities, Severe Teratoid

MedGen UID:
438147
•Concept ID:
C2713367
•
Congenital Abnormality
Synonyms: Abnormality, Severe Teratoid; Severe Teratoid Abnormalities; Severe Teratoid Abnormality; Teratoid Abnormalities, Severe; Teratoid Abnormality, Severe

Definition

Marked developmental anomalies of a fetus or infant. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormalities, Severe Teratoid

Professional guidelines

PubMed

Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.
Bijok J, Dąbkowska S, Kucińska-Chahwan A, Massalska D, Nowakowska B, Gawlik-Zawiślak S, Panek G, Roszkowski T
Arch Gynecol Obstet 2023 Jan;307(1):293-299. Epub 2022 May 12 doi: 10.1007/s00404-022-06584-3. PMID: 35554661
Prenatal diagnosis of holoprosencephaly.
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Prenatal diagnosis and obstetric management.
O'Brien P, Nugent M, Khalil A
Semin Pediatr Surg 2015 Oct;24(5):203-6. Epub 2015 Jun 23 doi: 10.1053/j.sempedsurg.2015.06.002. PMID: 26382256

Recent clinical studies

Etiology

Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts' hands.
Chen FC, Bacovsky A, Entezami M, Henrich W
J Perinat Med 2019 Aug 27;47(6):619-624. doi: 10.1515/jpm-2018-0436. PMID: 31194687
Reliable Pregnancy Testing Before Intravenous Cyclophosphamide: A Quality Improvement Study.
Hayward K, Haaland WL, Hrachovec J, Leu M, Vora S, Clifton H, Rascoff N, Crowell CS
Pediatrics 2016 Dec;138(6) Epub 2016 Nov 16 doi: 10.1542/peds.2016-0378. PMID: 27940668
Chromosomal abnormalities associated with cyclopia and synophthalmia.
Howard RO
Trans Am Ophthalmol Soc 1977;75:505-38. PMID: 418547Free PMC Article
Homo monstrosus.
Malefijt AD
Sci Am 1968 Oct;219(4):113-8. PMID: 4878740
ANENCEPHALY IN LIVERPOOL.
SMITHELLS RW, CHINN ER, FRANKLIN D
Dev Med Child Neurol 1964 Jun;6:231-40. doi: 10.1111/j.1469-8749.1964.tb10782.x. PMID: 14155181

Diagnosis

Conjoined twins-early prenatal diagnosis.
Gica N, Gana N, Mat C, Panaitescu AM, Peltecu G, Vayna AM
J Obstet Gynaecol 2020 Jul;40(5):723-724. Epub 2019 Oct 12 doi: 10.1080/01443615.2019.1650012. PMID: 31607199
Abdominal mystery in a neonate.
Halabi A, Khan U, Maazoun K, Kamal NM
Arch Dis Child Educ Pract Ed 2020 Aug;105(4):227-229. Epub 2019 Jul 13 doi: 10.1136/archdischild-2018-316161. PMID: 31302593
Heteropagus (parasitic) twins: a review.
Sharma G, Mobin SS, Lypka M, Urata M
J Pediatr Surg 2010 Dec;45(12):2454-63. doi: 10.1016/j.jpedsurg.2010.07.002. PMID: 21129567
Fetus-in-fetu.
Nocera RM, Davis M, Hayden CK Jr, Schwartz M, Swischuk LE
AJR Am J Roentgenol 1982 Apr;138(4):762-4. doi: 10.2214/ajr.138.4.762. PMID: 6978047
Cebo-anancephaly.
Chaurasia BD, Dharker SR
Anat Anz 1976;140(5):514-9. PMID: 828460

Therapy

An assessment of the general public's knowledge of fatal fetal anomalies.
Power S, Meaney S, O'Donoghue K
Prenat Diagn 2018 Oct;38(11):883-890. Epub 2018 Aug 31 doi: 10.1002/pd.5348. PMID: 30144106
Reliable Pregnancy Testing Before Intravenous Cyclophosphamide: A Quality Improvement Study.
Hayward K, Haaland WL, Hrachovec J, Leu M, Vora S, Clifton H, Rascoff N, Crowell CS
Pediatrics 2016 Dec;138(6) Epub 2016 Nov 16 doi: 10.1542/peds.2016-0378. PMID: 27940668
Sympodia.
Ho NK, Loo DS
Am J Dis Child 1974 Sep;128(3):391-3. doi: 10.1001/archpedi.1974.02110280121019. PMID: 4472335
Cyclopia.
Khudr G, Olding L
Am J Dis Child 1973 Jan;125(1):120-2. doi: 10.1001/archpedi.1973.04160010082020. PMID: 4630624
A case of cyclopia.
Batts JA Jr, Punnett HH, Valdes-Dapena M, Coles JW, Green WR
Am J Obstet Gynecol 1972 Mar;112(5):657-61. doi: 10.1016/0002-9378(72)90791-0. PMID: 5059596

Prognosis

A case of craniopagus parasiticus: an antenatal diagnosis by ultrasound screening at 16 weeks of gestation and a literature review of recently reported cases.
Al-Yaqoubi HN, Fatema N, Al-Fahdi BS
Turk J Pediatr 2019;61(6):941-945. doi: 10.24953/turkjped.2019.06.017. PMID: 32134590
Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts' hands.
Chen FC, Bacovsky A, Entezami M, Henrich W
J Perinat Med 2019 Aug 27;47(6):619-624. doi: 10.1515/jpm-2018-0436. PMID: 31194687
Treatment of acardiac twinning.
Arias F, Sunderji S, Gimpelson R, Colton E
Obstet Gynecol 1998 May;91(5 Pt 2):818-21. doi: 10.1016/s0029-7844(97)00708-4. PMID: 9572174
Multiple pregnancy. 1.
Benirschke K, Kim CK
N Engl J Med 1973 Jun 14;288(24):1276-84. doi: 10.1056/NEJM197306142882406. PMID: 4574107
PREGNANCY WITH ANENCEPHALY.
COMERFORD JB
Lancet 1965 Mar 27;1(7387):679-80. doi: 10.1016/s0140-6736(65)91832-5. PMID: 14258549

Clinical prediction guides

Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts' hands.
Chen FC, Bacovsky A, Entezami M, Henrich W
J Perinat Med 2019 Aug 27;47(6):619-624. doi: 10.1515/jpm-2018-0436. PMID: 31194687
Heteropagus (parasitic) twins: a review.
Sharma G, Mobin SS, Lypka M, Urata M
J Pediatr Surg 2010 Dec;45(12):2454-63. doi: 10.1016/j.jpedsurg.2010.07.002. PMID: 21129567
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.
Labrune P, Trioche P, Fallet-Bianco C, Roume J, Narcy F, Le Merrer M
Am J Med Genet 1997 Dec 12;73(2):144-9. PMID: 9409864
Anencephalus, Spina Bifida, twins, and teratoma.
Rogers SC
Br J Prev Soc Med 1976 Mar;30(1):26-8. doi: 10.1136/jech.30.1.26. PMID: 779911Free PMC Article
A ten-year study of anencephaly.
SMILKSTEIN G
Calif Med 1962 May;96(5):350-3. PMID: 13914041Free PMC Article

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