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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

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
Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.
Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C
J Perinatol 2019 Aug;39(8):1072-1077. Epub 2019 Jun 18 doi: 10.1038/s41372-019-0407-9. PMID: 31213636
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.
Hong S, Hu P, Roessler E, Hu T, Muenke M
Hum Mol Genet 2018 Jun 1;27(11):1989-1998. doi: 10.1093/hmg/ddy106. PMID: 29584859Free PMC Article
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M
Hum Mol Genet 2001 Apr 1;10(8):791-6. doi: 10.1093/hmg/10.8.791. PMID: 11285244
Cortical maturation in normal and abnormal fetuses as assessed with prenatal MR imaging.
Levine D, Barnes PD
Radiology 1999 Mar;210(3):751-8. doi: 10.1148/radiology.210.3.r99mr47751. PMID: 10207478

Diagnosis

Campylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a brief literature review.
Valenčak-Ignjatić I, Krajcar N, Didović D, Roglić S, Butić I, Jelić M, Jednačak H, Tešović G
BMC Infect Dis 2022 Aug 20;22(1):700. doi: 10.1186/s12879-022-07680-0. PMID: 35987621Free 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 mythologic and teratologic distillate.
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
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
Middle interhemispheric fusion.
Coll Masfarré S, Majós Torró C, Aguilera Grijalvo C, Pons Irazazábal LC
Eur Radiol 1998;8(4):631-3. doi: 10.1007/s003300050450. PMID: 9569338

Therapy

Comparing Repeatability and Agreement between Commonly Used Corneal Imaging Devices in Keratoconus.
Angelo L, Gokul A, McGhee C, Ziaei M
Optom Vis Sci 2023 Nov 1;100(11):761-769. Epub 2023 Oct 25 doi: 10.1097/OPX.0000000000002079. PMID: 37890110
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
Self-reported maternal smoking during pregnancy by source in Utah, 2003-2007.
Srisukhumbowornchai S, Krikov S, Feldkamp ML
Birth Defects Res A Clin Mol Teratol 2012 Dec;94(12):996-1003. Epub 2012 Jul 23 doi: 10.1002/bdra.23058. PMID: 22821801

Prognosis

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.
Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C
J Perinatol 2019 Aug;39(8):1072-1077. Epub 2019 Jun 18 doi: 10.1038/s41372-019-0407-9. PMID: 31213636
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 due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M
Hum Mol Genet 2001 Apr 1;10(8):791-6. doi: 10.1093/hmg/10.8.791. PMID: 11285244
Cortical maturation in normal and abnormal fetuses as assessed with prenatal MR imaging.
Levine D, Barnes PD
Radiology 1999 Mar;210(3):751-8. doi: 10.1148/radiology.210.3.r99mr47751. PMID: 10207478
Magnetic resonance imaging of supratentorial congenital brain malformations.
Byrd SE
J Natl Med Assoc 1989 Aug;81(8):873-81. PMID: 2671396Free PMC Article

Clinical prediction guides

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
An overview of oral frena and their association with multiple syndromic and nonsyndromic conditions.
Mintz SM, Siegel MA, Seider PJ
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Mar;99(3):321-4. doi: 10.1016/j.tripleo.2004.08.008. PMID: 15716839
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M
Hum Mol Genet 2001 Apr 1;10(8):791-6. doi: 10.1093/hmg/10.8.791. PMID: 11285244
Cortical maturation in normal and abnormal fetuses as assessed with prenatal MR imaging.
Levine D, Barnes PD
Radiology 1999 Mar;210(3):751-8. doi: 10.1148/radiology.210.3.r99mr47751. PMID: 10207478

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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