A RARE CASE OF SHPRINTZEN-GOLDBERG SYNDROME
AbstractShprintzen-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
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.