Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?


Ozsu E., Mutlu R. G. Y. , Isik O., Cizmecioglu F. M. , Hatun S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.6, pp.266-268, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.4274/jcrpe.1355
  • Title of Journal : JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Page Numbers: pp.266-268

Abstract

IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity.