Etiology
Altunoglu U,
Palencia-Campos A,
Güneş N,
Turgut GT,
Nevado J,
Lapunzina P,
Valencia M,
Iturrate A,
Otaify G,
Elhossini R,
Ashour A,
K Amin A,
Elnahas RF,
Fernandez-Nuñez E,
Flores CL,
Arias P,
Tenorio J,
Chamorro Fernández CI,
Güven Y,
Özsu E,
Eklioğlu BS,
Ibarra-Ramirez M,
Diness BR,
Burnyte B,
Ajmi H,
Yüksel Z,
Yıldırım R,
Ünal E,
Abdalla E,
Aglan M,
Kayserili H,
Tuysuz B,
Ruiz-Pérez V
J Med Genet
2024 Jun 20;61(7):633-644.
doi: 10.1136/jmg-2023-109546.
PMID: 38531627
Marszałek-Kruk BA,
Myśliwiec A,
Lipowicz A,
Wolański W,
Kulesa-Mrowiecka M,
Dowgierd K
Genes (Basel)
2023 Dec 24;15(1)
doi: 10.3390/genes15010029.
PMID: 38254920Free PMC Article
Wieczorek D
Clin Genet
2013 Jun;83(6):499-510.
Epub 2013 Apr 8
doi: 10.1111/cge.12123.
PMID: 23565775
Huber C,
Cormier-Daire V
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):165-74.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31336.
PMID: 22791528
Dimitrov B,
Balikova I,
Jekova N,
Vakrilova L,
Fryns JP,
Simeonov E
Am J Med Genet A
2005 May 15;135(1):81-5.
doi: 10.1002/ajmg.a.30673.
PMID: 15793832
Diagnosis
Altunoglu U,
Palencia-Campos A,
Güneş N,
Turgut GT,
Nevado J,
Lapunzina P,
Valencia M,
Iturrate A,
Otaify G,
Elhossini R,
Ashour A,
K Amin A,
Elnahas RF,
Fernandez-Nuñez E,
Flores CL,
Arias P,
Tenorio J,
Chamorro Fernández CI,
Güven Y,
Özsu E,
Eklioğlu BS,
Ibarra-Ramirez M,
Diness BR,
Burnyte B,
Ajmi H,
Yüksel Z,
Yıldırım R,
Ünal E,
Abdalla E,
Aglan M,
Kayserili H,
Tuysuz B,
Ruiz-Pérez V
J Med Genet
2024 Jun 20;61(7):633-644.
doi: 10.1136/jmg-2023-109546.
PMID: 38531627
Marszałek-Kruk BA,
Myśliwiec A,
Lipowicz A,
Wolański W,
Kulesa-Mrowiecka M,
Dowgierd K
Genes (Basel)
2023 Dec 24;15(1)
doi: 10.3390/genes15010029.
PMID: 38254920Free PMC Article
Drivas TG,
Taylor JA,
Zackai EH
Am J Med Genet A
2019 Jun;179(6):1063-1068.
Epub 2019 Mar 28
doi: 10.1002/ajmg.a.61121.
PMID: 30924273
Lansinger Y,
Rayan G
J Hand Surg Am
2015 Apr;40(4):851-4.
Epub 2014 Dec 24
doi: 10.1016/j.jhsa.2014.10.064.
PMID: 25543163
Senggen E,
Laswed T,
Meuwly JY,
Maestre LA,
Jaques B,
Meuli R,
Gudinchet F
Pediatr Radiol
2011 May;41(5):549-61.
Epub 2010 Oct 6
doi: 10.1007/s00247-010-1831-3.
PMID: 20924574
Therapy
Quigley CA,
Li YG,
Brown MR,
Pillai SG,
Banerjee P,
Scott RS,
Blum WF,
Parks JS
Horm Res Paediatr
2019;91(3):164-174.
Epub 2019 Apr 10
doi: 10.1159/000496989.
PMID: 30970347
Pinto RO,
Peixoto AP,
Pinto ADS,
Richieri-Costa A,
Zechi-Ceide RM,
Ozawa TO,
Dalben GDS
J Craniofac Surg
2018 Sep;29(6):1596-1600.
doi: 10.1097/SCS.0000000000004588.
PMID: 29863549
Wu CC,
Sakahara D,
Imai K
J Plast Reconstr Aesthet Surg
2017 Oct;70(10):1449-1456.
Epub 2017 Feb 7
doi: 10.1016/j.bjps.2016.12.014.
PMID: 28688869
Denu RA,
Burkard ME
Clin Breast Cancer
2017 Jun;17(3):e151-e153.
Epub 2017 Jan 5
doi: 10.1016/j.clbc.2016.12.009.
PMID: 28139434Free PMC Article
Schoner K,
Steinhard J,
Figiel J,
Rehder H
Obstet Gynecol
2008 Feb;111(2 Pt 2):483-6.
doi: 10.1097/01.AOG.0000298347.18812.a4.
PMID: 18238994
Prognosis
Ulhaq ZS,
Soraya GV,
Istifiani LA,
Pamungkas SA,
Tse WKF
Cleft Palate Craniofac J
2023 Aug;60(8):1041-1047.
Epub 2022 Mar 25
doi: 10.1177/10556656221089156.
PMID: 35331022
Chummun S,
McLean NR,
Anderson PJ,
Nieuwenhoven Cv,
Mathijssen I,
David DJ
J Craniofac Surg
2016 Jun;27(4):932-7.
doi: 10.1097/SCS.0000000000002626.
PMID: 27171953
Rosa RF,
Guimarães VB,
Beltrão LA,
Trombetta JS,
Lliguin KL,
de Mattos VF,
Zen PR
Pediatr Int
2015 Apr;57(2):e69-72.
Epub 2015 Mar 25
doi: 10.1111/ped.12562.
PMID: 25808856
Herrmann BW,
Karzon R,
Molter DW
Int J Pediatr Otorhinolaryngol
2005 Aug;69(8):1053-9.
Epub 2005 Mar 19
doi: 10.1016/j.ijporl.2005.02.011.
PMID: 16005346
Dimitrov B,
Balikova I,
Jekova N,
Vakrilova L,
Fryns JP,
Simeonov E
Am J Med Genet A
2005 May 15;135(1):81-5.
doi: 10.1002/ajmg.a.30673.
PMID: 15793832
Clinical prediction guides
Smallwood K,
Watt KEN,
Ide S,
Baltrunaite K,
Brunswick C,
Inskeep K,
Capannari C,
Adam MP,
Begtrup A,
Bertola DR,
Demmer L,
Demo E,
Devinsky O,
Gallagher ER,
Guillen Sacoto MJ,
Jech R,
Keren B,
Kussmann J,
Ladda R,
Lansdon LA,
Lunke S,
Mardy A,
McWalters K,
Person R,
Raiti L,
Saitoh N,
Saunders CJ,
Schnur R,
Skorvanek M,
Sell SL,
Slavotinek A,
Sullivan BR,
Stark Z,
Symonds JD,
Wenger T,
Weber S,
Whalen S,
White SM,
Winkelmann J,
Zech M,
Zeidler S,
Maeshima K,
Stottmann RW,
Trainor PA,
Weaver KN
Am J Hum Genet
2023 May 4;110(5):809-825.
Epub 2023 Apr 18
doi: 10.1016/j.ajhg.2023.03.014.
PMID: 37075751Free PMC Article
Hampl M,
Cela P,
Szabo-Rogers HL,
Kunova Bosakova M,
Dosedelova H,
Krejci P,
Buchtova M
J Dent Res
2017 Aug;96(9):965-974.
Epub 2017 Jun 12
doi: 10.1177/0022034517713688.
PMID: 28605602Free PMC Article
Rosa RF,
Guimarães VB,
Beltrão LA,
Trombetta JS,
Lliguin KL,
de Mattos VF,
Zen PR
Pediatr Int
2015 Apr;57(2):e69-72.
Epub 2015 Mar 25
doi: 10.1111/ped.12562.
PMID: 25808856
Huber C,
Cormier-Daire V
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):165-74.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31336.
PMID: 22791528
Favaro FP,
Zechi-Ceide RM,
Alvarez CW,
Maximino LP,
Antunes LF,
Richieri-Costa A,
Guion-Almeida ML
Am J Med Genet A
2011 Feb;155A(2):322-31.
Epub 2010 Dec 22
doi: 10.1002/ajmg.a.33806.
PMID: 21271648