Have a personal or library account? Click to login
The Many Faces of Oral-Facial-Digital Syndrome Cover

The Many Faces of Oral-Facial-Digital Syndrome

Open Access
|Jul 2012

References

  1. Mohr OL. A hereditary subletal syndrome in man. Nor Vidensk Akad Oslo I mat Naturv Klasse. 1941; 14: 3-18.
  2. Fenton OM, Watt-Smith SR. The spectrum of oralfacial-digital syndrome. Br J Plast Surg. 1985; 38(4): 532-539.10.1016/0007-1226(85)90016-5
  3. Toriello HV. Oral-facial-digital syndromes. Clin Dysmorphol. 1993; 2(2): 95-105.10.1097/00019605-199304000-00001
  4. Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet A. 2009; 149(5): 1089-1095.10.1002/ajmg.a.3279919396822
  5. Moran-Barroso V, Valdes Flores M, Garcia-Cavazos R, Kofman-Alfaro S, Saavedra-Ontiveros D. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? Clin Dysmorphol. 1998; 7(1): 55-57.
  6. Gabrielli O, Ficcadenti A, Fabrizzi G, Perri P, Mercuri A, Coppa GV, Giorgi P. Child with oral, facial, digital and skeletal anomalies and psychomotor delay: a new OFDS form? Am J Med Genet. 1994; 53(3): 290-293.10.1002/ajmg.13205303157531942
  7. Degner D, Bleich S, Riegel A, Rüther E. [Orofacial-digital syndrome - a new variant? Psychiatric, neurologic and neuroradiological findings.] Fortschr Neurol Psychiatr. 1999; 67(12): 525-528.10.1055/s-2007-99522910683749
  8. Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Molec Genet. 1997; 6(7): 1163-1167.10.1093/hmg/6.7.11639215688
  9. Thauvin-Rabinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and geno-type-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006; 43(1): 54-61.10.1136/jmg.2004.027672256450416397067
  10. Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009; 151C(4): 318-325.10.1002/ajmg.c.3022419876934
  11. Neri G, Gurrieri F, Genuardi M. Oral-facial-skeletal syndromes. Am J Med Genet. 1995; 59(3): 365-368.10.1002/ajmg.13205903178599363
  12. Digilio MC, Marino B, Giannotti A, Dallapiccolla B. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. J Med Genet. 1996; 33(5): 416-418.10.1136/jmg.33.5.41610506148733055
  13. Verloes A. Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. Am J Med Genet. 1995; 55(4): 433-43.10.1002/ajmg.1320550410
  14. Fransceshini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Short-rib dysplsia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet. 1995; 59(3): 359-364.10.1002/ajmg.1320590316
  15. Baraitser M. A female infant with features of Mohr and Majevski syndromes: variable expression, a genetic compound, or distinct entity? J Med Genet. 1983; 20(1): 65-67.10.1136/jmg.20.1.65
  16. Camera G, Marasini M, Pozzolo S, Camera A. Oral-facial-digital syndrome: report on a transitional type between the Mohr and Varadi syndromes in a fetus. Am J Med Genet. 1994; 53(2): 196-198.10.1002/ajmg.1320530215
  17. Chitayat D, Stalker HJ, Azouz EM. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome? Am J Med Genet. 1992; 44(5): 567-572.10.1002/ajmg.1320440507
  18. Levy EP, Fletcher BD, Fraser FC. Mohr syndrome with subclinical expression of the bifid great toe. Am J Dis Child. 1974; 128(4): 531-533.10.1001/archpedi.1974.02110290101019
  19. Hsieh YC, Hou JW. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet 1999; 86(3): 278-281.10.1002/(SICI)1096-8628(19990917)86:3<;278::AID-AJMG16>3.0.CO;2-C
  20. Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet. 1990; 35(3): 360-369.10.1002/ajmg.1320350310
  21. Al-Qattan MM, Hassanain JMA. Classification of limb anomalies in oral-facial-digital syndromes. J Hand Surg B. 1997; 22(2): 250-252.10.1016/S0266-7681(97)80074-5
  22. Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Central nervous system malformations and early endstage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet. 1998; 75(4): 389-94.10.1002/(SICI)1096-8628(19980203)75:4<;389::AID-AJMG8>3.0.CO;2-L
  23. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011; 32(8): 1459-1463.10.3174/ajnr.A2517
  24. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet. 1980; 7(1): 47-74.10.1002/ajmg.1320070110
  25. Opitz JM, Penchaszadeh VB, Holt M C, Spano LM. Smith-Lemli-Opitz (RSH) syndrome bibliography. Am J Med Genet. 1987; 28(3): 745-750.10.1002/ajmg.1320280324
  26. Verloes A, Ayme S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Holo-prosencephaly-polydactyly (‘pseudotrisomy 13’) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet 1991; 28(5): 297-303.10.1136/jmg.28.5.297
  27. Toriello HV, Carey J, Suslak E, Desposito F, Leonard B, Lipson M, Friedman B, Hoyme E. Six patients with oral-facial-digital syndorme IV: the case for heterogeneity. Am J Med Genet. 1997; 69(3): 250-260.10.1002/(SICI)1096-8628(19970331)69:3<;250::AID-AJMG8>3.0.CO;2-P
  28. Annerén G, Gustavson KH, Jozwiak S, Kjartansson S, Strömberg B. Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). Clin Genet (Copenhagen). 1990; 38(1): 69-73.10.1111/j.1399-0004.1990.tb03549.x
  29. Ades LC, Clapton WK, Morphett A, Morris LL, Haan EA. Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV. Am J Med Genet. 1994; 49(2): 211-217.10.1002/ajmg.1320490211
  30. Meinecke P, Hayek H. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet. 1990; 27(3): 200-202.10.1136/jmg.27.3.200
  31. Toriello HV, Lemire E. Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant? Clin Dysmorphol. 2002; 11(1): 19-23.10.1097/00019605-200201000-00004
  32. Yildrim S, Akan M, Deviren A, Akoz T. Penile agenesis and clavicular anomaly in a child with oral facial digital syndrome. Clin Dysmorphol. 2002; 11(1): 29-32.10.1097/00019605-200201000-00006
  33. Balci S, Guler G, Kale G, Soylemezoglu F, Besim A. Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Prenat Diag. 1999; 19(9): 827-831.10.1002/(SICI)1097-0223(199909)19:9<;827::AID-PD644>3.0.CO;2-E
  34. Iaccarino M, Lonardo F, Giugliano M, Della Bruna MD. Prenatal diagnosis of Mohr syndrome by ultrasonography. Prenat Diagn. 1985; 5(6): 415-418.10.1002/pd.1970050607
Language: English
Page range: 37 - 44
Published on: Jul 20, 2012
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2012 E Sukarova-Angelovska, N Angelkova, S Palcevska-Kocevska, M Kocova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 15 (2012): Issue 1 (June 2012)