Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

Am J Med Genet A. 2006 Aug 15;140(16):1778-84. doi: 10.1002/ajmg.a.31365.

Abstract

Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that autosomal recessive inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adrenal Glands / abnormalities
  • Adrenal Insufficiency / congenital*
  • Adrenal Insufficiency / diagnosis
  • Adrenal Insufficiency / genetics*
  • Fatal Outcome
  • Female
  • Finger Phalanges / abnormalities
  • Finger Phalanges / diagnostic imaging
  • Follow-Up Studies
  • Genes, Recessive*
  • Genes, X-Linked*
  • Humans
  • Infant
  • Metacarpal Bones / abnormalities
  • Metacarpal Bones / diagnostic imaging
  • Radiography
  • Ribs / abnormalities
  • Ribs / diagnostic imaging
  • Siblings*
  • Syndrome
  • Ultrasonography, Prenatal