Etiology
Van Dijck A,
Vulto-van Silfhout AT,
Cappuyns E,
van der Werf IM,
Mancini GM,
Tzschach A,
Bernier R,
Gozes I,
Eichler EE,
Romano C,
Lindstrand A,
Nordgren A;
ADNP Consortium,
Kvarnung M,
Kleefstra T,
de Vries BBA,
Küry S,
Rosenfeld JA,
Meuwissen ME,
Vandeweyer G,
Kooy RF
Biol Psychiatry
2019 Feb 15;85(4):287-297.
Epub 2018 Mar 15
doi: 10.1016/j.biopsych.2018.02.1173.
PMID: 29724491Free PMC Article
Koemans TS,
Kleefstra T,
Chubak MC,
Stone MH,
Reijnders MRF,
de Munnik S,
Willemsen MH,
Fenckova M,
Stumpel CTRM,
Bok LA,
Sifuentes Saenz M,
Byerly KA,
Baughn LB,
Stegmann APA,
Pfundt R,
Zhou H,
van Bokhoven H,
Schenck A,
Kramer JM
PLoS Genet
2017 Oct;13(10):e1006864.
Epub 2017 Oct 25
doi: 10.1371/journal.pgen.1006864.
PMID: 29069077Free PMC Article
Sennaroğlu L,
Bajin MD
Balkan Med J
2017 Sep 29;34(5):397-411.
Epub 2017 Aug 25
doi: 10.4274/balkanmedj.2017.0367.
PMID: 28840850Free PMC Article
Picciolini O,
Porro M,
Cattaneo E,
Castelletti S,
Masera G,
Mosca F,
Bedeschi MF
Ital J Pediatr
2016 Jun 3;42(1):56.
doi: 10.1186/s13052-016-0256-5.
PMID: 27260152Free PMC Article
Harrison MS
J Laryngol Otol
1976 Jun;90(6):561-70.
doi: 10.1017/s0022215100082451.
PMID: 778316
Diagnosis
Birgfeld C,
Heike C
Clin Plast Surg
2019 Apr;46(2):207-221.
doi: 10.1016/j.cps.2018.12.001.
PMID: 30851752
Picciolini O,
Porro M,
Cattaneo E,
Castelletti S,
Masera G,
Mosca F,
Bedeschi MF
Ital J Pediatr
2016 Jun 3;42(1):56.
doi: 10.1186/s13052-016-0256-5.
PMID: 27260152Free PMC Article
Chummun S,
McLean NR,
Nugent M,
Anderson PJ,
David DJ
J Craniofac Surg
2012 Jul;23(4):986-90.
doi: 10.1097/SCS.0b013e31824e2683.
PMID: 22777437
Gilchrist JM
Semin Neurol
2009 Feb;29(1):5-13.
Epub 2009 Feb 12
doi: 10.1055/s-0028-1124018.
PMID: 19214928
Kjaer I
Crit Rev Oral Biol Med
1998;9(2):224-44.
doi: 10.1177/10454411980090020501.
PMID: 9603237
Therapy
Radoš I
Acta Clin Croat
2022 Sep;61(Suppl 2):96-102.
doi: 10.20471/acc.2022.61.s2.12.
PMID: 36824641Free PMC Article
Araya EI,
Claudino RF,
Piovesan EJ,
Chichorro JG
Curr Neuropharmacol
2020;18(2):109-119.
doi: 10.2174/1570159X17666191010094350.
PMID: 31608834Free PMC Article
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Sudulagunta SR,
Sodalagunta MB,
Sepehrar M,
Khorram H,
Bangalore Raja SK,
Kothandapani S,
Noroozpour Z,
Aheta Sham M,
Prasad N,
Sunny SP,
Mohammed MD,
Gangadharappa R,
Nidsale Sudarshan R
Ger Med Sci
2015;13:Doc16.
Epub 2015 Sep 21
doi: 10.3205/000220.
PMID: 26421004Free PMC Article
Tiemstra JD,
Khatkhate N
Am Fam Physician
2007 Oct 1;76(7):997-1002.
PMID: 17956069
Prognosis
Kennelly KD
Handb Clin Neurol
2019;161:327-342.
doi: 10.1016/B978-0-444-64142-7.00058-8.
PMID: 31307611
Koemans TS,
Kleefstra T,
Chubak MC,
Stone MH,
Reijnders MRF,
de Munnik S,
Willemsen MH,
Fenckova M,
Stumpel CTRM,
Bok LA,
Sifuentes Saenz M,
Byerly KA,
Baughn LB,
Stegmann APA,
Pfundt R,
Zhou H,
van Bokhoven H,
Schenck A,
Kramer JM
PLoS Genet
2017 Oct;13(10):e1006864.
Epub 2017 Oct 25
doi: 10.1371/journal.pgen.1006864.
PMID: 29069077Free PMC Article
Picciolini O,
Porro M,
Cattaneo E,
Castelletti S,
Masera G,
Mosca F,
Bedeschi MF
Ital J Pediatr
2016 Jun 3;42(1):56.
doi: 10.1186/s13052-016-0256-5.
PMID: 27260152Free PMC Article
Gilchrist JM
Semin Neurol
2009 Feb;29(1):5-13.
Epub 2009 Feb 12
doi: 10.1055/s-0028-1124018.
PMID: 19214928
Kjaer I
Crit Rev Oral Biol Med
1998;9(2):224-44.
doi: 10.1177/10454411980090020501.
PMID: 9603237
Clinical prediction guides
Koemans TS,
Kleefstra T,
Chubak MC,
Stone MH,
Reijnders MRF,
de Munnik S,
Willemsen MH,
Fenckova M,
Stumpel CTRM,
Bok LA,
Sifuentes Saenz M,
Byerly KA,
Baughn LB,
Stegmann APA,
Pfundt R,
Zhou H,
van Bokhoven H,
Schenck A,
Kramer JM
PLoS Genet
2017 Oct;13(10):e1006864.
Epub 2017 Oct 25
doi: 10.1371/journal.pgen.1006864.
PMID: 29069077Free PMC Article
Sennaroğlu L,
Bajin MD
Balkan Med J
2017 Sep 29;34(5):397-411.
Epub 2017 Aug 25
doi: 10.4274/balkanmedj.2017.0367.
PMID: 28840850Free PMC Article
Sudulagunta SR,
Sodalagunta MB,
Sepehrar M,
Khorram H,
Bangalore Raja SK,
Kothandapani S,
Noroozpour Z,
Aheta Sham M,
Prasad N,
Sunny SP,
Mohammed MD,
Gangadharappa R,
Nidsale Sudarshan R
Ger Med Sci
2015;13:Doc16.
Epub 2015 Sep 21
doi: 10.3205/000220.
PMID: 26421004Free PMC Article
Kalaydjieva L
Orphanet J Rare Dis
2006 Aug 29;1:32.
doi: 10.1186/1750-1172-1-32.
PMID: 16939648Free PMC Article
Guyuron B,
Bokhari F,
Galloway DV,
Thomas T
Plast Reconstr Surg
1994 Aug;94(2):251-3.
doi: 10.1097/00006534-199408000-00005.
PMID: 8041815