Etiology
Fouda MA,
Kim TY,
Cohen AR
World Neurosurg
2022 Mar;159:48-53.
Epub 2021 Dec 22
doi: 10.1016/j.wneu.2021.12.062.
PMID: 34954057
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
Petryk A,
Graf D,
Marcucio R
Wiley Interdiscip Rev Dev Biol
2015 Jan-Feb;4(1):17-32.
Epub 2014 Oct 22
doi: 10.1002/wdev.161.
PMID: 25339593Free PMC Article
Bellone S,
De Rienzo F,
Prodam F,
Savastio S,
Busti A,
Genoni G,
Aimaretti G,
Bona G
Panminerva Med
2010 Dec;52(4):345-54.
PMID: 21183895
Turleau C
Orphanet J Rare Dis
2008 Feb 19;3:4.
doi: 10.1186/1750-1172-3-4.
PMID: 18284672Free PMC Article
Diagnosis
Fouda MA,
Kim TY,
Cohen AR
World Neurosurg
2022 Mar;159:48-53.
Epub 2021 Dec 22
doi: 10.1016/j.wneu.2021.12.062.
PMID: 34954057
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
Winter TC,
Kennedy AM,
Byrne J,
Woodward PJ
J Ultrasound Med
2010 Mar;29(3):427-44.
doi: 10.7863/jum.2010.29.3.427.
PMID: 20194938
Volpe P,
Campobasso G,
De Robertis V,
Rembouskos G
Prenat Diagn
2009 Apr;29(4):340-54.
doi: 10.1002/pd.2208.
PMID: 19184971
Turleau C
Orphanet J Rare Dis
2008 Feb 19;3:4.
doi: 10.1186/1750-1172-3-4.
PMID: 18284672Free PMC Article
Therapy
Coi A,
Santoro M,
Pierini A,
Rankin J,
Glinianaia SV,
Tan J,
Reid AK,
Garne E,
Loane M,
Given J,
Ballardini E,
Cavero-Carbonell C,
de Walle HEK,
Gatt M,
García-Villodre L,
Gissler M,
Jordan S,
Kiuru-Kuhlefelt S,
Kjaer Urhoj S,
Klungsøyr K,
Lelong N,
Lutke LR,
Neville AJ,
Rahshenas M,
Scanlon I,
Wellesley D,
Morris JK
Orphanet J Rare Dis
2022 Mar 29;17(1):142.
doi: 10.1186/s13023-022-02292-y.
PMID: 35351164Free PMC Article
Zhang TN,
Huang XM,
Zhao XY,
Wang W,
Wen R,
Gao SY
PLoS Med
2022 Feb;19(2):e1003900.
Epub 2022 Feb 1
doi: 10.1371/journal.pmed.1003900.
PMID: 35104296Free PMC Article
Shannon P
Clin Neuropathol
2020 Nov/Dec;39(6):288-299.
doi: 10.5414/NP301266.
PMID: 32589127
Guillen-Sacoto MJ,
Martinez AF,
Abe Y,
Kruszka P,
Weiss K,
Everson JL,
Bataller R,
Kleiner DE,
Ward JM,
Sulik KK,
Lipinski RJ,
Solomon BD,
Muenke M
J Hepatol
2017 Oct;67(4):809-817.
Epub 2017 Jun 21
doi: 10.1016/j.jhep.2017.06.008.
PMID: 28645738Free PMC Article
Cohen MM Jr,
Shiota K
Am J Med Genet
2002 Apr 15;109(1):1-15.
doi: 10.1002/ajmg.10258.
PMID: 11932986
Prognosis
Demir M,
Sertel E,
Ture MZ
Eur J Obstet Gynecol Reprod Biol
2021 May;260:64-69.
Epub 2021 Mar 15
doi: 10.1016/j.ejogrb.2021.03.016.
PMID: 33743359
Bellone S,
De Rienzo F,
Prodam F,
Savastio S,
Busti A,
Genoni G,
Aimaretti G,
Bona G
Panminerva Med
2010 Dec;52(4):345-54.
PMID: 21183895
Volpe P,
Campobasso G,
De Robertis V,
Rembouskos G
Prenat Diagn
2009 Apr;29(4):340-54.
doi: 10.1002/pd.2208.
PMID: 19184971
Turleau C
Orphanet J Rare Dis
2008 Feb 19;3:4.
doi: 10.1186/1750-1172-3-4.
PMID: 18284672Free PMC Article
Hahn JS,
Pinter JD
Semin Pediatr Neurol
2002 Dec;9(4):309-19.
doi: 10.1053/spen.2002.32507.
PMID: 12523555
Clinical prediction guides
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
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
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
Yamada S
Congenit Anom (Kyoto)
2006 Dec;46(4):164-71.
doi: 10.1111/j.1741-4520.2006.00123.x.
PMID: 17096815
Carstens MH
J Craniofac Surg
2002 Jan;13(1):129-87; discussion 188-90.
doi: 10.1097/00001665-200201000-00032.
PMID: 11887012