The short face syndrome.
Opdebeeck H, Bell WH.
Am J Orthod. 1978 May;73(5):499-511. doi: 10.1016/0002-9416(78)90240-3.
Smith-Magenis Syndrome: Face Speaks.
Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR.
Indian J Pediatr. 2016 Jun;83(6):589-93. doi: 10.1007/s12098-015-1940-y. Epub 2015 Dec 17.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.
Monosomy 18p.
Turleau C.
Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4.
Surgical treatment of the short face syndrome.
Freihofer HP.
J Oral Surg. 1981 Nov;39(11):907-11.
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ.
Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11.
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B.
Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50.
RAPADILINO syndrome.
Vargas FR, de Almeida JC, Llerena Júnior JC, Reis DF.
Am J Med Genet. 1992 Dec 1;44(6):716-9. doi: 10.1002/ajmg.1320440604.
Costello syndrome.
Madhukara J, Kumaran MS.
Indian J Dermatol Venereol Leprol. 2007 Nov-Dec;73(6):406-8. doi: 10.4103/0378-6323.37059.
Unmasking Kabuki syndrome.
Bögershausen N, Wollnik B.
Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26.
