Balkan Journal of Medical Genetics

MISDIAGNOSIS OF TRACHER-COLLINS SYNDROME INITIALLY ATTRIBUTED TO DRUG TERATOGENICITY: A MOROCCAN CASE REPORT
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani
*Corresponding Author: Afaf Lamzouri (MD, Ass. Prof.): Department of Medical Genetics and Oncogenetics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy of Tangier, BP 365 km 15 Gzenaya Tangier, Morocco. Fax: 05.39.39.21.46. Phone number: 00 212 6 10 77 79 59. Email: lamzouriafaf@hotmail.com / lamzouriafaf82@gmail.com / a.lamzouri@uae.ac.ma
page: 69

REFERENCES

1. Les Cahiers d’Orphanet - Prévalence des maladies rares : Données bibliographiques - Janvier 2020 – Num 2. 2. Cercle de Réflexion sur l’Imputabilité (CRI) : Yan- nick Arimone et al ; Réactualisation de la méthode française d’imputabilité des effets indésirables des médicaments ; Thérapie 2011 Novembre-Décembre ; 66(6) : 517–525. 3. Centre de Référence sur les Agents Tératogènes. Etat des connaissances sur la trimipramine. (Http://lec- rat.fr/spip.php?page=article&id_article=250). Mise à jour : 6 juin 2019. 4. Katsanis SH, Jabs EW. Treacher Collins Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1532/). Last Update: August 20, 2020. 5. Da Silva Dalben G, Costa B, Gomide MR. Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Col- lins syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006; 101:588–92. 6. Ginger JS. Treacher Collins Syndrome: A Case Review. Advances in Neonatal Care 2011; 11; 6: 389-394. 7. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CAL, Haeringen AV, Hoefsloot LH et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011; 43:20–22. 8. Sanchez E, Laplace-Builhé B, Mau-Them FT, Rich- ard E, Goldenberg A, Toler TL et al. POLR1B and neural crest cell anomalies in Treacher Collins syn- drome type 4. Genet Med. 2020; 22:547–56. 9. Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med 2014; 16:720–724. 10. Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficien- cies that cause craniofacial abnormalities. PNAS. 2006;103;36: 13403-13408. 11. Trainor PA, Andrews BT. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. 12. Calo E, Gu B, Bowen ME, Aryan F, Zalc A, Liang J, et al. Tissue–selective effects of nucleolar stress and rDNA damage in developmental disorders. Nature. 2018 Feb 1; 554(7690): 112–117. 13. Vincent M, Geneviève D, Ostertag A, Marlin S, La- combe D, Martin-Coignard D et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016; 18:49–56.

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