Adrenal Hypoplasia with Skeletal Dysplasia: IMAGe Syndrome

Direk G., GÜL ŞİRAZ Ü., Tatli Z. U., Akin L., HATİPOĞLU N., KENDİRCİ M., ...Daha Fazla

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, cilt.16, sa.3, ss.134-140, 2018 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 3
  • Basım Tarihi: 2018
  • Dergi Adı: GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.134-140
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.