A rare case of shprintzen-goldberg syndrome | [Journal of Ayub Medical College • 2021]

Author(s):

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

2. Leela Sreekantan Nair Sreela: Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam-,India

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

4. 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.

Page(s): 155-158

DOI: DOI not available

Published: Journal: Journal of Ayub Medical College, Volume: 33, Issue: 1, Year: 2021

Keywords:

Uvula , Brachycephaly , Hypertelorism , Cryptorchidism , Cleftpalate , Craniosynostosis

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