Shprintzen-Goldberg Syndrome: A Rare Disorder

J Coll Physicians Surg Pak. 2019 Jun;29(6):S41-S42. doi: 10.29271/jcpsp.2019.06.S41.

Abstract

The Shprintzen-Goldberg syndrome (SGS) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic facial dysmorphism, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation. It may be a de novo gene mutation or inherited as an autosomal dominant disorder having SKI gene and Fibrillin-1 gene (FBN1) mutations, located on chromosome 15q21.1. We report a case of a 3-month, developmentally delayed male infant admitted to the hospital with syndromic facies, craniosynostosis, joint laxity and on echocardiography, aortic root dilatation. A probable diagnosis of SGS was made on the clinical grounds. We did not have the facility for genetic chromosomal analysis. He was discharged with family counselling and follow-up for future developmental rehabilitation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anorexia
  • Arachnodactyly / diagnosis*
  • Cachexia
  • Consanguinity
  • Craniosynostoses / diagnosis*
  • DiGeorge Syndrome / diagnosis*
  • Echocardiography
  • Eye Abnormalities
  • Facies
  • Funnel Chest
  • Humans
  • Infant
  • Joint Instability
  • Male
  • Marfan Syndrome / diagnosis*
  • Muscle Hypotonia
  • Rare Diseases
  • Skin Diseases

Supplementary concepts

  • FACES syndrome
  • Shprintzen Golberg craniosynostosis