Etiology
Alves CAPF,
Sidpra J,
Manteghinejad A,
Sudhakar S,
Massey FV,
Aldinger KA,
Haldipur P,
Lucato LT,
Ferraciolli SF,
Teixeira SR,
Öztekin Ö,
Bhattacharya D,
Taranath A,
Prabhu SP,
Mirsky DM,
Andronikou S,
Millen KJ,
Barkovich AJ,
Boltshauser E,
Dobyns WB,
Barkovich MJ,
Whitehead MT,
Mankad K
AJNR Am J Neuroradiol
2023 Oct;44(10):1201-1207.
Epub 2023 Aug 17
doi: 10.3174/ajnr.A7967.
PMID: 37591769Free PMC Article
Darouich S,
Boutaud L,
Bessières B,
Bonnière M,
Martinovic J,
Mechler C,
Alby C,
Bernard JP,
Roth P,
Ville Y,
Malan V,
Vekemans M,
Attié-Bitach T,
Encha-Razavi F
Birth Defects Res
2017 Nov 15;109(19):1586-1595.
Epub 2017 Jul 31
doi: 10.1002/bdr2.1093.
PMID: 28758373
Forzano F,
Mansour S,
Ierullo A,
Homfray T,
Thilaganathan B
Prenat Diagn
2007 Jun;27(6):495-501.
doi: 10.1002/pd.1722.
PMID: 17367101
Klein O,
Pierre-Kahn A,
Boddaert N,
Parisot D,
Brunelle F
Childs Nerv Syst
2003 Aug;19(7-8):484-9.
Epub 2003 Jul 16
doi: 10.1007/s00381-003-0782-5.
PMID: 12879343
Osenbach RK,
Menezes AH
Pediatr Neurosurg
1992;18(4):179-89.
doi: 10.1159/000120660.
PMID: 1472430
Diagnosis
Reis LM,
Amor DJ,
Haddad RA,
Nowak CB,
Keppler-Noreuil KM,
Chisholm SA,
Semina EV
Genes (Basel)
2023 Oct 17;14(10)
doi: 10.3390/genes14101948.
PMID: 37895297Free PMC Article
Alves CAPF,
Sidpra J,
Manteghinejad A,
Sudhakar S,
Massey FV,
Aldinger KA,
Haldipur P,
Lucato LT,
Ferraciolli SF,
Teixeira SR,
Öztekin Ö,
Bhattacharya D,
Taranath A,
Prabhu SP,
Mirsky DM,
Andronikou S,
Millen KJ,
Barkovich AJ,
Boltshauser E,
Dobyns WB,
Barkovich MJ,
Whitehead MT,
Mankad K
AJNR Am J Neuroradiol
2023 Oct;44(10):1201-1207.
Epub 2023 Aug 17
doi: 10.3174/ajnr.A7967.
PMID: 37591769Free PMC Article
Matsunaga T
Auris Nasus Larynx
2021 Apr;48(2):185-193.
Epub 2020 Aug 26
doi: 10.1016/j.anl.2020.08.017.
PMID: 32859446
Forzano F,
Mansour S,
Ierullo A,
Homfray T,
Thilaganathan B
Prenat Diagn
2007 Jun;27(6):495-501.
doi: 10.1002/pd.1722.
PMID: 17367101
Klein O,
Pierre-Kahn A,
Boddaert N,
Parisot D,
Brunelle F
Childs Nerv Syst
2003 Aug;19(7-8):484-9.
Epub 2003 Jul 16
doi: 10.1007/s00381-003-0782-5.
PMID: 12879343
Prognosis
Alves CAPF,
Sidpra J,
Manteghinejad A,
Sudhakar S,
Massey FV,
Aldinger KA,
Haldipur P,
Lucato LT,
Ferraciolli SF,
Teixeira SR,
Öztekin Ö,
Bhattacharya D,
Taranath A,
Prabhu SP,
Mirsky DM,
Andronikou S,
Millen KJ,
Barkovich AJ,
Boltshauser E,
Dobyns WB,
Barkovich MJ,
Whitehead MT,
Mankad K
AJNR Am J Neuroradiol
2023 Oct;44(10):1201-1207.
Epub 2023 Aug 17
doi: 10.3174/ajnr.A7967.
PMID: 37591769Free PMC Article
Darouich S,
Boutaud L,
Bessières B,
Bonnière M,
Martinovic J,
Mechler C,
Alby C,
Bernard JP,
Roth P,
Ville Y,
Malan V,
Vekemans M,
Attié-Bitach T,
Encha-Razavi F
Birth Defects Res
2017 Nov 15;109(19):1586-1595.
Epub 2017 Jul 31
doi: 10.1002/bdr2.1093.
PMID: 28758373
Forzano F,
Mansour S,
Ierullo A,
Homfray T,
Thilaganathan B
Prenat Diagn
2007 Jun;27(6):495-501.
doi: 10.1002/pd.1722.
PMID: 17367101
Klein O,
Pierre-Kahn A,
Boddaert N,
Parisot D,
Brunelle F
Childs Nerv Syst
2003 Aug;19(7-8):484-9.
Epub 2003 Jul 16
doi: 10.1007/s00381-003-0782-5.
PMID: 12879343
Osenbach RK,
Menezes AH
Pediatr Neurosurg
1992;18(4):179-89.
doi: 10.1159/000120660.
PMID: 1472430
Clinical prediction guides
Abdel-Salam GMH,
Abdel-Hamid MS
Clin Genet
2023 Sep;104(3):356-364.
Epub 2023 May 15
doi: 10.1111/cge.14357.
PMID: 37190898
Darouich S,
Boutaud L,
Bessières B,
Bonnière M,
Martinovic J,
Mechler C,
Alby C,
Bernard JP,
Roth P,
Ville Y,
Malan V,
Vekemans M,
Attié-Bitach T,
Encha-Razavi F
Birth Defects Res
2017 Nov 15;109(19):1586-1595.
Epub 2017 Jul 31
doi: 10.1002/bdr2.1093.
PMID: 28758373
Metzke-Heidemann S,
Kuhling-von Kaisenberg H,
Caliebe A,
Janssen D,
Jonat W,
Grote W,
von Kaisenberg CS
Am J Med Genet A
2004 Apr 15;126A(2):197-203.
doi: 10.1002/ajmg.a.20563.
PMID: 15057986
Klein O,
Pierre-Kahn A,
Boddaert N,
Parisot D,
Brunelle F
Childs Nerv Syst
2003 Aug;19(7-8):484-9.
Epub 2003 Jul 16
doi: 10.1007/s00381-003-0782-5.
PMID: 12879343