A Rare Case Of Shprintzen-Goldberg Syndrome

J Ayub Med Coll Abbottabad. 2021 Jan-Mar;33(1):155-158.


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.

Publication types

  • Case Reports

MeSH terms

  • Arachnodactyly*
  • Child, Preschool
  • Craniosynostoses*
  • Humans
  • Male
  • Marfan Syndrome*

Supplementary concepts

  • Shprintzen Golberg craniosynostosis