A RARE CASE OF SHPRINTZEN-GOLDBERG SYNDROME

Authors

  • Parvathy Chitran Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India
  • Sreela L.S Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India
  • Philips Mathew Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India
  • Twinkle S Prasad Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India

Abstract

Shprintzen-Goldberg syndrome is a relatively rare congenital connective tissue type of disorder with a constellation of dysmorphic features including craniosynostosis, craniofacial, skeletal, cardiovascular and neurological abnormalities. We present the case-report of a 5-year-old boy with Shprintzen-Goldberg syndrome and a brief review of literature pertaining to this condition. The patients with Shprintzen-Goldberg syndrome show a considerable phenotypic overlap with other craniosynostosis syndromes. So, a meticulous evaluation of these patients should be performed for a prudent diagnosis. Since these patients present with multiple systemic conditions,a multidisciplinary approach should be planned for their management. Keywords: Brachycephaly; Cleftpalate; Craniosynostosis; Cryptorchidism; Hypertelorism; Uvula

Author Biographies

Parvathy Chitran, Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India

JUNIOR RESIDENT ORAL MEDICINE AND RADIOLOGY

Sreela L.S, Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India

PROFESSOR AND HEAD OF THE DEPARTMENT, ORAL MEDICINE AND RADIOLOGY

Philips Mathew, Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India

ASSISTANT  PROFESSOR  ORAL MEDICINE AND RADIOLOGY

Twinkle S Prasad, Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-India

ASSOCIATE  PROFESSOR  ORAL MEDICINE AND RADIOLOGY

References

Shah B, Sahu S, Kalakoti P, Yadav S, Syed MM, Bhattad VB, et al. Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. Australas Med J 2014;7(2):51–7.

Topouzelis N, Markovitsi E, Antoniades K. Shprintzen-Goldberg syndrome: case report. Cleft Palate Craniofac J 2003;40(4):433–6.

Yadav S, Rawal G. Shprintzen-Goldberg syndrome: a rare disorder. Pan Afr Med J 2016;23:227.

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(3):202–12.

Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg Syndrome with Tetralogy of Fallot and Subvalvar Aortic Stenosis. J Ultrasound Med 2005;24(5):703–6.

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

Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006;140(1):104–8.

Downloads

Published

2021-02-21