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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

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

Idris G, Smith C, Galland B, Taylor R, Robertson CJ, Farella M
Nutrients 2021 Dec 3;13(12) doi: 10.3390/nu13124354. PMID: 34959906Free PMC Article
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
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
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
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

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
Yamasaki M, Kanemura Y
Neurol Med Chir (Tokyo) 2015;55(8):640-6. Epub 2015 Jul 31 doi: 10.2176/nmc.ra.2015-0075. PMID: 26227058Free PMC Article
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
Cohen MM Jr
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):8-12. doi: 10.1002/ajmg.c.30252. PMID: 20082455
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

Shannon P
Clin Neuropathol 2020 Nov/Dec;39(6):288-299. doi: 10.5414/NP301266. PMID: 32589127
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
Lee W, Bae JS
Blood Coagul Fibrinolysis 2015 Sep;26(6):628-34. doi: 10.1097/MBC.0000000000000320. PMID: 26126169
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
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

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
Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M
Am J Hum Genet 2019 May 2;104(5):990-993. Epub 2019 Apr 18 doi: 10.1016/j.ajhg.2019.03.017. PMID: 31006510Free PMC Article
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
Ko JM, Kim SH
Pediatr Neurol 2010 Oct;43(4):245-52. doi: 10.1016/j.pediatrneurol.2010.05.001. PMID: 20837302
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

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
Tekendo-Ngongang C, Owosela B, Muenke M, Kruszka P
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):154-158. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31770. PMID: 32022405
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
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
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

Recent systematic reviews

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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