Adrenal hypoplasia with skeletal dysplasia: IMAGe syndrome Adrenal hipoplazi ve iskelet displazisi birlikteliği: IMAGe sendromu

Direk G., GÜL ŞİRAZ Ü., Tatlı Z. U., Akın L., HATİPOĞLU N., Kendirci M., ...More

Guncel Pediatri, vol.16, no.3, pp.134-140, 2018 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 3
  • Publication Date: 2018
  • Journal Name: Guncel Pediatri
  • Journal Indexes: Scopus
  • Page Numbers: pp.134-140
  • Keywords: Adrenal hypoplasia congenita, Adrenal insufficiency, Image syndrome, Metaphyseal dysplasia
  • Ondokuz Mayıs University Affiliated: No

Abstract

IMAGe syndrome is an acronym which stands for the intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita (AHC) and genitourinary abnormalities. Congenital adrenal hypoplasia is the most serious component of the syndrome which generally occurs during the first months of life. In the presented case, shortness of extremities was detected antenatally and the symptoms of adrenal failure showed up on the 4th day of life. Because the adrenal insufficiency is a life-threatening condition, early diagnosis of this syndrome is very important. Recognition of other components of the disease makes early intervention possible. Being a rare disease, a case with IMAGe syndrome is presented with a short review of the literature.