Etiology
Adam MP,
Banka S,
Bjornsson HT,
Bodamer O,
Chudley AE,
Harris J,
Kawame H,
Lanpher BC,
Lindsley AW,
Merla G,
Miyake N,
Okamoto N,
Stumpel CT,
Niikawa N;
Kabuki Syndrome Medical Advisory Board
J Med Genet
2019 Feb;56(2):89-95.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
PMID: 30514738
Gassner HG,
Schwan F,
Haubner F,
Suárez GA,
Vielsmeier V
Facial Plast Surg
2016 Apr;32(2):213-8.
Epub 2016 Apr 20
doi: 10.1055/s-0036-1578567.
PMID: 27097143
Nowaczyk MJ,
Thompson BA,
Zeesman S,
Moog U,
Sanchez-Lara PA,
Magoulas PL,
Falk RE,
Hoover-Fong JE,
Batista DA,
Amudhavalli SM,
White SM,
Graham GE,
Rauen KA
Clin Genet
2014 Feb;85(2):138-46.
Epub 2013 Apr 2
doi: 10.1111/cge.12116.
PMID: 23379592Free PMC Article
Adam MP,
Hudgins L
Clin Genet
2005 Mar;67(3):209-19.
doi: 10.1111/j.1399-0004.2004.00348.x.
PMID: 15691356
de la Fuente A,
Martin del Yerro JL
Aesthetic Plast Surg
1994 Fall;18(4):357-61.
doi: 10.1007/BF00451340.
PMID: 7817883
Diagnosis
Lima AR,
Ferreira BM,
Zhang C,
Jolly A,
Du H,
White JJ,
Dawood M,
Lins TC,
Chiabai MA,
van Beusekom E,
Cordoba MS,
Caldas Rosa ECC,
Kayserili H,
Kimonis V,
Wu E,
Mellado C,
Aggarwal V,
Richieri-Costa A,
Brunoni D,
Canó TM,
Jorge AAL,
Kim CA,
Honjo R,
Bertola DR,
Dandalo-Girardi RM,
Bayram Y,
Gezdirici A,
Yilmaz-Gulec E,
Gumus E,
Yilmaz GC,
Okamoto N,
Ohashi H,
Coban-Akdemir Z,
Mitani T,
Jhangiani SN,
Muzny DM,
Regattieri NAP,
Pogue R,
Pereira RW,
Otto PA,
Gibbs RA,
Ali BR,
van Bokhoven H,
Brunner HG,
Sutton VR,
Lupski JR,
Vianna-Morgante AM,
Carvalho CMB,
Mazzeu JF
Hum Mutat
2022 Jul;43(7):900-918.
Epub 2022 May 10
doi: 10.1002/humu.24375.
PMID: 35344616Free PMC Article
Adam MP,
Banka S,
Bjornsson HT,
Bodamer O,
Chudley AE,
Harris J,
Kawame H,
Lanpher BC,
Lindsley AW,
Merla G,
Miyake N,
Okamoto N,
Stumpel CT,
Niikawa N;
Kabuki Syndrome Medical Advisory Board
J Med Genet
2019 Feb;56(2):89-95.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
PMID: 30514738
Koenig R,
Meinecke P,
Kuechler A,
Schäfer D,
Müller D
Am J Med Genet A
2010 Sep;152A(9):2372-5.
doi: 10.1002/ajmg.a.33587.
PMID: 20803650
Riyaz N,
Riyaz A,
Chandran R,
Rakesh SV
Indian J Dermatol Venereol Leprol
2005 Jul-Aug;71(4):279-81.
doi: 10.4103/0378-6323.16624.
PMID: 16394441
Adam MP,
Hudgins L
Clin Genet
2005 Mar;67(3):209-19.
doi: 10.1111/j.1399-0004.2004.00348.x.
PMID: 15691356
Therapy
Şibar S,
Erdal AI,
Doruk M,
Gündüz N,
Özçiler MF
Ann Plast Surg
2024 Nov 1;93(5):551-557.
Epub 2024 Jul 8
doi: 10.1097/SAP.0000000000004049.
PMID: 38980933
Jung DH,
Jin SG,
Hyun SM
Facial Plast Surg Clin North Am
2018 Aug;26(3):377-388.
Epub 2018 Jun 7
doi: 10.1016/j.fsc.2018.03.011.
PMID: 30005793
Stephan S,
Wang TD
Facial Plast Surg
2012 Apr;28(2):177-86.
Epub 2012 May 6
doi: 10.1055/s-0032-1309297.
PMID: 22562567
Nolst Trenité GJ
Facial Plast Surg
2002 Aug;18(3):179-86.
doi: 10.1055/s-2002-33064.
PMID: 12152136
de la Fuente A,
Martin del Yerro JL
Aesthetic Plast Surg
1994 Fall;18(4):357-61.
doi: 10.1007/BF00451340.
PMID: 7817883
Prognosis
Uehara T,
Ishige T,
Hattori S,
Yoshihashi H,
Funato M,
Yamaguchi Y,
Takenouchi T,
Kosaki K
Am J Med Genet A
2018 Jun;176(6):1335-1340.
Epub 2018 Apr 16
doi: 10.1002/ajmg.a.38703.
PMID: 29663678
Yigit B,
Bicer A,
Aytop D
J Craniofac Surg
2015 Jan;26(1):e1-2.
doi: 10.1097/SCS.0000000000001173.
PMID: 25569406
Barrios ZMV
Plast Reconstr Surg
2008 Aug;122(2):74e-76e.
doi: 10.1097/PRS.0b013e31817d5ec0.
PMID: 18626325
Riyaz N,
Riyaz A,
Chandran R,
Rakesh SV
Indian J Dermatol Venereol Leprol
2005 Jul-Aug;71(4):279-81.
doi: 10.4103/0378-6323.16624.
PMID: 16394441
de la Fuente A,
Martin del Yerro JL
Aesthetic Plast Surg
1994 Fall;18(4):357-61.
doi: 10.1007/BF00451340.
PMID: 7817883
Clinical prediction guides
Şibar S,
Erdal AI,
Doruk M,
Gündüz N,
Özçiler MF
Ann Plast Surg
2024 Nov 1;93(5):551-557.
Epub 2024 Jul 8
doi: 10.1097/SAP.0000000000004049.
PMID: 38980933
McGrath M,
Bell E,
Locketz GD,
Becker DG
Curr Opin Otolaryngol Head Neck Surg
2019 Feb;27(1):1-6.
doi: 10.1097/MOO.0000000000000509.
PMID: 30507685
Uehara T,
Ishige T,
Hattori S,
Yoshihashi H,
Funato M,
Yamaguchi Y,
Takenouchi T,
Kosaki K
Am J Med Genet A
2018 Jun;176(6):1335-1340.
Epub 2018 Apr 16
doi: 10.1002/ajmg.a.38703.
PMID: 29663678
Nowaczyk MJ,
Thompson BA,
Zeesman S,
Moog U,
Sanchez-Lara PA,
Magoulas PL,
Falk RE,
Hoover-Fong JE,
Batista DA,
Amudhavalli SM,
White SM,
Graham GE,
Rauen KA
Clin Genet
2014 Feb;85(2):138-46.
Epub 2013 Apr 2
doi: 10.1111/cge.12116.
PMID: 23379592Free PMC Article
Fujimoto A,
Lipson M,
Lacro RV,
Shinno NW,
Boelter WD,
Jones KL,
Wilson MG
Am J Med Genet
1987 Aug;27(4):943-51.
doi: 10.1002/ajmg.1320270422.
PMID: 3321995