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.
|
|
|
|
 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
