COMPREHENSIVE GENETIC EVALUATION OF BULGARIAN CHILDREN WITH SYNDROMIC CRANIOSYNOSTOSIS
Delchev T.1, Hadjidekova S.2, Bichev S.3, Veleva Ts.1, Boneva I.4, Avdjieva-Tzavella D.1
*Corresponding Author: Trayan Delchev, MD, PhD, Department of Clinical genetics, University Children Hospital, Medical University of Sofia; Sofia, Bulgaria, Ivan Geshov blvd. No 11, tel: +359883482376, e-mail: trayan_delchev@abv.bg
page: 6

REFERENCES

1. Cohen MM Jr. History, terminology, and classification of craniosynostosis (chapter 1). In: Craniosynostosis: Diagnosis, Evaluation, and Management, 1st ed. New York, NY: Raven Press, 1886:1Y20. 2. Cohen MM Jr. Craniosynostosis: diagnosis, evaluation and management, 2nd ed. New York: Oxford University Press, 2000 3. Cohen MM Jr. Sutural biology (chapter 2). In: Cohen MM, MacLean RE, eds. Craniosynostosis: Diagnosis, Evaluation, and Management. 2nd ed. New York, NY: Oxford University Press, 2000:11Y23 4. F S Jehee et al., High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation- dependent probe amplification and array-based comparative genome hybridisation, 2008, J Med Genet 2008; 45: 447–450. doi:10.1136/jmg.2007.057042 5. S. Rahman, S.E. Noujaim, and K. Chaiyasate, Craniosynostosis: Diagnosis, Pitfalls, and Management. What the Radiologist Needs to Know, Neurographics 2017 September/October; 7(5): 354–362 6. John M. Graham, Jr., MD, ScD, Pedro A. Sanchez- Lara, MD, MSCE, Chapters 29, 30, 31, 32, 33 and 34. In: Smith’s Recognizable Petterns of Human Deformation, Edition 4, 2017 7. Brunetti-Pierri, N., Berg, J., Scaglia, F. et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40, 1466–1471 (2008). https://doi.org/10.1038/ ng.279 8. Ballini A, Cantore S, Tullo D & Desiate A.: Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. Journal of Medical Case Reports 2011 5:38. doi:10.1186/1752-1947- 5-38 9. Ortigas AP, Stein CK, Thomson LL, Hoo JJ. Delineation of 14q32.3 deletion syndrome. J Med Genet. 1997;34(6):515-517. doi:10.1136/jmg.34.6.515 10. Tatton-Brown, K., Rahman, N. Sotos syndrome. Eur J Hum Genet 15, 264–271 (2007). https://doi. org/10.1038/sj.ejhg.5201686. 11. Kurotaki N, Imaizumi K, Harada N. et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. PMID: 11896389. 12. Tatton-Brown K, Douglas J, Coleman K. et al. Childhood Overgrowth Collaboration. Genotypephenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. PMID: 15942875; PMCID: PMC1224542. 13. Douglas J, Tatton-Brown K, Coleman K et al. Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet. 2005 Sep;42(9):e56. doi: 10.1136/jmg.2005.031930. PMID: 16140999; PMCID: PMC1736125. 14. Su, N., Jin, M. & Chen, L. Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models. Bone Res 2, 14003 (2014). https://doi.org/10.1038/boneres.2014.3 15. Nie X, Luukko K, Kettunen P. FGF signalling in craniofacial development and developmental disorders. Oral Dis. 2006 Mar;12(2):102-11. doi: 10.1111/j.1601- 0825.2005.01176.x. PMID: 16476029. 16. Brisset S et al., Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations. Eur J Med Genet. 2015 Sep;58(9):497-501. doi: 10.1016/j.ejmg.2015.07.001. Epub 2015 Jul 8. PMID: 26162704. 17. Lovrecic, L., Gnan, C., Baldan, F. et al. Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability. Mol Cytogenet 11, 39 (2018). https://doi.org/10.1186/ s13039-018-0388-y 18. Hufnagel RB, Zimmerman SL, Krueger LA, Bender PL, Ahmed ZM, Saal HM. A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. Am J Med Genet A. 2016 Feb;170A(2):487-491. doi: 10.1002/ajmg.a.37441. Epub 2015 Nov 18. PMID: 26581443. 19. Kuldeep CM, Khare AK, Garg A, Mittal A, Gupta L. Terminal 4q deletion syndrome. Indian J Dermatol. 2012;57(3):222-224. doi:10.4103/0019-5154.96203 20. Cohen, M.M., JR. (1997), Transforming Growth Factor βs and Fibroblast Growth Factors and Their Receptors: Role in Sutural Biology and Craniosynostosis. J Bone Miner Res, 12: 322-331. https://doi. org/10.1359/jbmr.1997.12.3.322 21. Centrella M, Horowitz MC, Wozney JM, McCarthy TL. Transforming growth factor-beta gene family members and bone. Endocr Rev. 1994 Feb;1 5(1): 27-39. doi: 10.1210/edrv-15-1-27. PMID: 8156937.



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