Khandelwal D, Kulkarni SV, Kalra N, Tyagi R, Khatri A, Yangdol P. A Rare Case of Shprintzen-Goldberg craniosynostosis syndrome with Hirschsprung disorder: Dental characteristics and its Clinical Management. J Clin Exp Dent. 2023;15(12):e1054-9.

doi:10.4317/jced.60930

________

References

1. O'Dougherty GR, Fulkerson DH, Kern M, Haldar K, Calhoun B. Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report. Am J Case Rep. 2019;20:1159-69. https://doi.org/10.12659/AJCR.914924 PMid:31391415 PMCid:PMC6698069

2. Vieira DM, Silva FG, Diniz MB, Ferreira MCD, Santos MT, Guaré RO. Shprintzen-goldberg craniosynostosis: craniofacial and oral characteristics, diagnosis, and clinical management of a very rare syndrome. RGO, Rev Gaúch Odontol [Internet]. 2022;70:e20220042. https://doi.org/10.1590/1981-86372022004220210001

3. Choi JH, Li R, Gannaway R, Causey TN, Harrison A, Couser NL. Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review. Case Rep Genet. 2020;2020:7353452. https://doi.org/10.1155/2020/7353452 PMid:33628537 PMCid:PMC7895601

4. Yadav S, Rawal G. Shprintzen-Goldberg syndrome: a rare disorder. Pan Afr Med J. 2016;23:227. https://doi.org/10.11604/pamj.2016.23.227.7482 PMid:27761171 PMCid:PMC5052323

5. Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, et al. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A. 2005;135:251-62. https://doi.org/10.1002/ajmg.a.30431 PMid:15884042

6. Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat genet. 2012;44:1249-1254. https://doi.org/10.1038/ng.2421 PMid:23023332 PMCid:PMC3545695

7. Au PY, Racher HE, Graham JM, Kramer N, Lowry RB, Parboosingh JS, et al. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. Am J Med Genet A. 2014;164:676-84. https://doi.org/10.1002/ajmg.a.36340 PMid:24357594

8. Wheeler JB, Ikonomidis JS, Jones JA. Connective tissue disorders and cardiovascular complications: The indomitable role of transforming growth factor-beta signaling. Adv Exp Med Biol. 2015;802:107-2 https://doi.org/10.1007/978-94-007-7893-1_8 PMid:24443024 PMCid:PMC4410689

9.Yalcintepe S, Yüreğir OO, Bozdoğan ST, Aslan H. Shprintzen-Goldberg Syndrome: Case Report. Meandros Med Dent J. 2015;19:175-7. https://doi.org/10.4274/meandros.2209

10. Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, et al. Shprintzen-Goldberg Syndrome: A Clinical Analysis. Am J Med Genet. 1998;76:202-12 https://doi.org/10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S PMid:9508238

11. Raseena KT, Kumar A, Jeeva PP, Ramesh R. Shprintzen-Goldberg syndrome (SGS): an extremely rare disorder. IOSR-JDMS. 2020;19:55-8.

12. Waterlow JC. Classification and definition of protein-calorie malnutrition. British medical journal. 1972;3:566. https://doi.org/10.1136/bmj.3.5826.566 PMid:4627051 PMCid:PMC1785878

13. Topouzelis N, Markovitsi E, Antoniades K. Shprintzen-Goldberg syndrome: case report. Cleft Palate Craniofac J. 2003;40(:433-6. https://doi.org/10.1597/1545-1569_2003_040_0433_sscr_2.0.co_2 PMid:12846610

14. Pavone V, Leonardi R, Sorge G, Pavone P, Pratico A, Sessa G. A patient with Shprintzen-Goldberg syndrome. Clinical follow-up for twelve years. J Pediatr Sci. 2012;4:1-6.

15. American Academy of Pediatric Dentistry. Reference manual. Guideline on Caries-risk Assessment and Management for Infants, Children, and Adolescents. Pediatr Dent. 2017;39:197-204. PMID: 27931452