A CASE OF TREACHER COLLINS SYNDROME
Ulusal S1,*, Gürkan H1, Vatansever Ü2, Kürkçü K3, Tozkir H1, Acunaş BA2
*Corresponding Author: Dr. Selma Ulusal, Department of Medical Genetics, Trakya University, Faculty of
Medicine, Edirne, Turkey; Tel.: +90-284-235-76-42-2346; Gsm: +90-533-2504116; Fax: +90-284-235-27-30;
E-mail: selmaulusal@trakya.edu.tr
page: 77
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REFERENCES
1. Fazen LE, Elmore J, Nadler HL. Mandibulofacial
dysostosis (Treacher-Collins syndrome).
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2. Treacher Collins E. Case with symmetrical congenital
notches in the outer part of each lower lid
and defective development of the malar bones.
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3. Francheschetti A, Klein D. The mandibulo-facial
dysostosis. A new hereditary syndrome. Acta
Ophtalmol (Copenh). 1949; 27(2): 143-229.
4. Rovin S, Dachi SF, Borenstein DB, Cotter WB.
Mandibulofacial dysostosis, a familial study of
five generations. J Pediatr. 1964; 65(2): 215-221.
5. The Treacher Collins Collaborative Group. Positional
cloning of a gene involved in the pathogenesis
of Treacher Collins syndrome. Nat Genet
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6. Dixon J, Trainor P, Dixon MJ. Treacher Collins
syndrome. Orthod Craniofac Res. 2007; 10(2)
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7. Marres HAM, Cremes WRJ, Dixon MJ, Huygen
PLM, Joosten FBM. The Treacher Collins
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linkage study on two pedigrees. Arch Otolaryngol
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8. Teber ÖA, Gillessen-Kaesbach G, Fischer S,
Böhringer S, Albrecht B, Albert A, et al. Genotyping
in 46 patients with tentative diagnosis of
Treacher Collins syndrome revealed unexpected
phenotypic variation. Europ J Hum Genet
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9. Schlump JU, Stein A, Hehr U, Karen T, Möller-
Hartman C, Elcioglu NH, et al. Treacher Collins
syndrome: clinical implications for the pediatrician–
a new mutation in a severely affected newborn
and comparison with three further patients
with the same mutation, and review of the literature.
Eur J Pediatr. 2012; 171(11): 1611-1618.
10. Horiuchi K, Ariga T, Fujioka H, Kawashima K,
Yamamoto Y, Igawa H, et al. Mutational analysis
of TCOF1 gene in 11 Japanese patients with
Treacher Collins syndrome and mechanism of
mutagenesis. Am J Med Genet. 2005; 134A(4):
363-367.
11. Kopelman JN, Duff P. Treacher-Collins syndrome:
an association with polyhydramnios.
Mil Med. 1988; 153(9): 485-486.
12. Ruangvutilert P, Sutantawibul A, Susanee-vithayakul
P, Limwongse C. Ultrasonographic prenatal
diagnosis of Treacher Collins syndrome. J
Med Assoc Thai. 2003; 86(5): 482-488.
13. Pereira DC, Bussamra LC, Arauio Júnior E,
Drummond CL, Nardozza LM, Moron AF, et al.
Prenatal diagnosis of Treacher Collins syndrome
using three-dimensional ultrasonography and
differential diagnosis with other acrofacial dysostosis
syndromes. Case Rep Obstet Gynecol.
2013; 2013: 203976. doi: 10.1155/2013/203976
Epub 2013 Apr 4.
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