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Holoprosencephaly 8(HPE8)

MedGen UID:
322873
•Concept ID:
C1836254
•
Disease or Syndrome
Synonym: HPE8
 
Monarch Initiative: MONDO:0012267
OMIM®: 609408

Definition

A holoprosencephaly that has material basis in variation in the chromosome region 14q13. [from MONDO]

Professional guidelines

PubMed

An algorithm for prenatal ultrasound diagnosis of congenital CNS abnormalities.
Carrasco CR, Stierman ED, Harnsberger HR, Lee TG
J Ultrasound Med 1985 Apr;4(4):163-8. doi: 10.7863/jum.1985.4.4.163. PMID: 3886921

Recent clinical studies

Etiology

Routine first-trimester ultrasound screening using a standardized anatomical protocol.
Liao Y, Wen H, Ouyang S, Yuan Y, Bi J, Guan Y, Fu Q, Yang X, Guo W, Huang Y, Zeng Q, Qin Y, Xiang H, Li S
Am J Obstet Gynecol 2021 Apr;224(4):396.e1-396.e15. Epub 2020 Oct 27 doi: 10.1016/j.ajog.2020.10.037. PMID: 33127430
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011.
Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, Jamieson DJ, Botto LD, Reefhuis J; National Birth Defects Prevention Study
Am J Obstet Gynecol 2020 Feb;222(2):176.e1-176.e11. Epub 2019 Aug 24 doi: 10.1016/j.ajog.2019.08.028. PMID: 31454511Free PMC Article
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Holoprosencephaly: a guide to diagnosis and clinical management.
Raam MS, Solomon BD, Muenke M
Indian Pediatr 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. PMID: 21743112Free PMC Article
Epidemiology of holoprosencephaly: Prevalence and risk factors.
Orioli IM, Castilla EE
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):13-21. doi: 10.1002/ajmg.c.30233. PMID: 20104599

Diagnosis

Routine first-trimester ultrasound screening using a standardized anatomical protocol.
Liao Y, Wen H, Ouyang S, Yuan Y, Bi J, Guan Y, Fu Q, Yang X, Guo W, Huang Y, Zeng Q, Qin Y, Xiang H, Li S
Am J Obstet Gynecol 2021 Apr;224(4):396.e1-396.e15. Epub 2020 Oct 27 doi: 10.1016/j.ajog.2020.10.037. PMID: 33127430
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011.
Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, Jamieson DJ, Botto LD, Reefhuis J; National Birth Defects Prevention Study
Am J Obstet Gynecol 2020 Feb;222(2):176.e1-176.e11. Epub 2019 Aug 24 doi: 10.1016/j.ajog.2019.08.028. PMID: 31454511Free PMC Article
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Holoprosencephaly: a guide to diagnosis and clinical management.
Raam MS, Solomon BD, Muenke M
Indian Pediatr 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. PMID: 21743112Free PMC Article
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Therapy

Central nervous system pathology in the amniotic rupture sequence.
Shannon P
Clin Neuropathol 2020 Nov/Dec;39(6):288-299. doi: 10.5414/NP301266. PMID: 32589127
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.
Addissie YA, Kruszka P, Troia A, Wong ZC, Everson JL, Kozel BA, Lipinski RJ, Malecki KMC, Muenke M
Environ Health 2020 Jun 8;19(1):65. doi: 10.1186/s12940-020-00611-z. PMID: 32513280Free PMC Article
Antithrombotic and antiplatelet activities of vicenin-2.
Lee W, Bae JS
Blood Coagul Fibrinolysis 2015 Sep;26(6):628-34. doi: 10.1097/MBC.0000000000000320. PMID: 26126169
Phenotypic variability in Patau syndrome.
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511
Sirenomelia and cyclopia cluster in Cali, Colombia.
Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM
Am J Med Genet A 2008 Oct 15;146A(20):2626-36. doi: 10.1002/ajmg.a.32506. PMID: 18798307

Prognosis

Diagnosis of fetal defects in twin pregnancies at routine 11-13-week ultrasound examination.
Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Apr;55(4):474-481. Epub 2020 Mar 6 doi: 10.1002/uog.21938. PMID: 31788879
Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.
Syngelaki A, Guerra L, Ceccacci I, Efeturk T, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Jul;50(1):45-48. Epub 2017 Apr 23 doi: 10.1002/uog.17286. PMID: 27558969
Holoprosencephaly: a guide to diagnosis and clinical management.
Raam MS, Solomon BD, Muenke M
Indian Pediatr 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. PMID: 21743112Free PMC Article
Clinical features and outcomes of holoprosencephaly in Korea.
Ko JM, Kim SH
Pediatr Neurol 2010 Oct;43(4):245-52. doi: 10.1016/j.pediatrneurol.2010.05.001. PMID: 20837302
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Clinical prediction guides

Routine first-trimester ultrasound screening using a standardized anatomical protocol.
Liao Y, Wen H, Ouyang S, Yuan Y, Bi J, Guan Y, Fu Q, Yang X, Guo W, Huang Y, Zeng Q, Qin Y, Xiang H, Li S
Am J Obstet Gynecol 2021 Apr;224(4):396.e1-396.e15. Epub 2020 Oct 27 doi: 10.1016/j.ajog.2020.10.037. PMID: 33127430
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011.
Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, Jamieson DJ, Botto LD, Reefhuis J; National Birth Defects Prevention Study
Am J Obstet Gynecol 2020 Feb;222(2):176.e1-176.e11. Epub 2019 Aug 24 doi: 10.1016/j.ajog.2019.08.028. PMID: 31454511Free PMC Article
Epidemiology of holoprosencephaly: Prevalence and risk factors.
Orioli IM, Castilla EE
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):13-21. doi: 10.1002/ajmg.c.30233. PMID: 20104599
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article
Holoprosencephaly: epidemiologic and clinical characteristics of a California population.
Croen LA, Shaw GM, Lammer EJ
Am J Med Genet 1996 Aug 23;64(3):465-72. doi: 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O. PMID: 8862623

Recent systematic reviews

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903

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