OTOPALATODIGITAL SYNDROME TYPE I: NOVEL CHARACTERISTICS AND PRENATAL MANIFESTATIONS IN TWO SIBLINGS
Joksic I1,*, Cuturilo G2,3, Jurisic A1,2, Djuricic S4,5, Peterlin B6, Mijovic M2, Karadzov Orlic N1,2, Egic A1,2, Milovanovic Z1,2
*Corresponding Author: Ivana Joksic, M.D., Ph.D., Gynecology and Obstetrics Clinic “Narodni Front”, Kraljice Natalije 62, 11000 Belgrade, Serbia. Tel: +381-64-128-7643. Fax: +381-11-334-9651. E-mail: ivanajoksic@yahoo.com
page: 83

REFERENCES

1. Robertson SP. Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, fronto-metaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet. 2007; 15(1): 3-9. 2. Robertson S. In: Adam MP, Ardinger HH, Pagon RA, Wallace Se, Bean LJH, Stephens K, et al. (editors). X-Linked Otopalatodigital Spectrum Disorders (1993-2019). GeneReviews® [Internet]. Seattle, WA, USA: University of Washington, Seattle; 2005 [updated 2019]. 3. Clark AR, Sawyer GM, Robertson SP, Sutherland- Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009; 18(24): 4791-4800. 4. Robertson S, Twigg S, Sutherland-Smith A, Biancalana V, Gorlin R, Horn D, et al.; The OPD Spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003; 33(4): 487-491. 5. Le Marec B, Odent S, Bracq E, Bulard MB, Bourdinière J, Babut JM. Oto-palato-digital type I syndrome in five generations. Relationship to the type II form. Ann Genet. 1988; 31(3): 155-161. 6. Dudding BA, Gorlin RJ, Langer LO. The oto-palatodigital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am J Dis Child. 1967; 113(2): 214-221. 7. Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, et al. Postzygotic mutation and germline mosaicism in the oto-palatodigital syndrome spectrum disorders. Eur J Hum Genet. 2006; 14(5): 549-554. 8. Murphy-Ryan M, Babovic-Vuksanovic D, Lindor N. Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. Am J Med Genet A. 2011; 155A(4): 855-859. 9. Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, et al. Fetal phenotypes in otopalatodigital spectrum disorders. Clin Genet. 2016; 89(3): 371-377. 10. Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings. Am J Med Genet A. 2007; 143A(10):1120-1125. 11. Femitha P, Joy R, Gane BD, Adhisivan B, Bhat BV. Frank-ter Haar Syndrome in a newborn. Indian J Pediatr. 2012; 79(8): 1091-1093.



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