THE MANY FACES OF ORAL-FACIAL-DIGITAL SYNDROME
Sukarova-Angelovska E, Angelkova N, Palcevska-Kocevska S, Kocova M
*Corresponding Author: Assistant Profesor Elena Sukarova-Angelovska, Pediatric Clinic, Faculty of Medicine, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel.: +389-70-358582; Fax: +389-2- 243301; E-mail: ESukarova@doctor.com
page: 37

REFERENCES

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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. 18. Levy EP, Fletcher BD, Fraser FC. Mohr syndrome with subclinical expression of the bifi d great toe. Am J Dis Child. 1974; 128(4): 531-533. 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. 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. 21. Al-Qattan MM, Hassanain JMA. Classifi cation of limb anomalies in oral-facial-digital syndromes. J Hand Surg B. 1997; 22(2): 250-252. 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. 23. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging fi ndings in 75 patients. AJNR Am J Neuroradiol. 2011; 32(8): 1459-1463. 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. 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. 26. Verloes A, Ayme S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. 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Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet. 1990; 27(3): 200-202. 31. Toriello HV, Lemire E. Optic nerve coloboma, Dandy- Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oralfacial- digital syndrome or a new variant? Clin Dysmorphol. 2002; 11(1): 19-23. 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. 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 fi ndings in both. Prenat Diag. 1999; 19(9): 827-831. 34. Iaccarino M, Lonardo F, Giugliano M, Della Bruna MD. Prenatal diagnosis of Mohr syndrome by ultrasonography. Prenat Diagn. 1985; 5(6): 415-418.



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