Etiology
Thomas MA,
Bedard T,
Crawford S,
Grevers X,
Lowry RB
J Pediatr
2023 Oct;261:113528.
Epub 2023 Jun 1
doi: 10.1016/j.jpeds.2023.113528.
PMID: 37268037
Rooijers W,
Tio PAE,
van der Schroeff MP,
Padwa BL,
Dunaway DJ,
Forrest CR,
Koudstaal MJ,
Caron CJJM
Int J Oral Maxillofac Surg
2022 Oct;51(10):1296-1304.
Epub 2022 Feb 3
doi: 10.1016/j.ijom.2022.01.005.
PMID: 35125269
Bautista G
Neoreviews
2021 Apr;22(4):e250-e257.
doi: 10.1542/neo.22-4-e250.
PMID: 33795400
Hartzell LD,
Chinnadurai S
Clin Perinatol
2018 Dec;45(4):679-697.
Epub 2018 Sep 18
doi: 10.1016/j.clp.2018.07.007.
PMID: 30396412
Hopper RA
Curr Opin Otolaryngol Head Neck Surg
2012 Aug;20(4):298-303.
doi: 10.1097/MOO.0b013e3283543a43.
PMID: 22894998
Diagnosis
Spineli-Silva S,
Sgardioli IC,
Dos Santos AP,
Bergamini LL,
Monlleó IL,
Fontes MIB,
Félix TM,
Ribeiro EM,
Xavier AC,
Lustosa-Mendes E,
Gil-da-Silva-Lopes VL,
Vieira TP
Am J Med Genet C Semin Med Genet
2020 Dec;184(4):970-985.
Epub 2020 Nov 20
doi: 10.1002/ajmg.c.31857.
PMID: 33215817
Birgfeld C,
Heike C
Clin Plast Surg
2019 Apr;46(2):207-221.
doi: 10.1016/j.cps.2018.12.001.
PMID: 30851752
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article
Bogusiak K,
Puch A,
Arkuszewski P
World J Pediatr
2017 Oct;13(5):405-415.
Epub 2017 Jun 15
doi: 10.1007/s12519-017-0048-z.
PMID: 28623555
Bennàssar A,
Ferrando J,
Grimalt R
World J Pediatr
2011 May;7(2):111-7.
Epub 2011 May 15
doi: 10.1007/s12519-011-0262-z.
PMID: 21574026
Therapy
Guo P,
Pan B,
Jiang H,
Yang Q,
He L,
Lin L
Int J Pediatr Otorhinolaryngol
2020 Jul;134:110062.
Epub 2020 Apr 21
doi: 10.1016/j.ijporl.2020.110062.
PMID: 32361149
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
Marvulli R,
Gallo GA,
Mastromauro L,
Dicuonzo F,
Fiore P,
Ianieri G,
Megna M
Endocr Metab Immune Disord Drug Targets
2018;18(4):397-400.
doi: 10.2174/1871530318666180328122035.
PMID: 29595115
Alshamrani AA,
Al-Shahwan S
J Glaucoma
2018 Jun;27(6):e110-e112.
doi: 10.1097/IJG.0000000000000946.
PMID: 29557836
Miller MT,
Strömland K,
Ventura L,
Johansson M,
Bandim JM,
Gillberg C
Int J Dev Neurosci
2005 Apr-May;23(2-3):201-19.
doi: 10.1016/j.ijdevneu.2004.06.007.
PMID: 15749246
Prognosis
Bergamini LL,
Spineli-Silva S,
Félix TM,
Gil-da-Silva-Lopes VL,
Vieira TP,
Ribeiro EM,
Xavier AC,
Lustosa-Mendes E,
Fontes MÍB,
Monlleó IL
Congenit Anom (Kyoto)
2021 Sep;61(5):148-158.
Epub 2021 May 10
doi: 10.1111/cga.12422.
PMID: 33900643
Moramarco A,
Himmelblau E,
Miraglia E,
Mallone F,
Roberti V,
Franzone F,
Iacovino C,
Giustini S,
Lambiase A
Orphanet J Rare Dis
2019 Sep 18;14(1):218.
doi: 10.1186/s13023-019-1190-6.
PMID: 31533758Free PMC Article
Hartzell LD,
Chinnadurai S
Clin Perinatol
2018 Dec;45(4):679-697.
Epub 2018 Sep 18
doi: 10.1016/j.clp.2018.07.007.
PMID: 30396412
Hopper RA
Curr Opin Otolaryngol Head Neck Surg
2012 Aug;20(4):298-303.
doi: 10.1097/MOO.0b013e3283543a43.
PMID: 22894998
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
Schierz IAM,
Piro E,
Giuffrè M,
Pinello G,
Angelini A,
Antona V,
Cimador M,
Corsello G
J Matern Fetal Neonatal Med
2022 Dec;35(23):4513-4520.
Epub 2020 Dec 1
doi: 10.1080/14767058.2020.1854213.
PMID: 36062518
Conlon CJ,
Abu-Ghname A,
Raghuram AC,
Davis MJ,
Guillen DE,
Sutton VR,
Carvalho CMB,
Maricevich RS
Am J Med Genet A
2021 Dec;185(12):3606-3612.
Epub 2020 Nov 25
doi: 10.1002/ajmg.a.61986.
PMID: 33237614
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article
Bogusiak K,
Puch A,
Arkuszewski P
World J Pediatr
2017 Oct;13(5):405-415.
Epub 2017 Jun 15
doi: 10.1007/s12519-017-0048-z.
PMID: 28623555