An infant with diaphragmatic hernia, anophthalmia and cardiac defect: Evaluation by magnetic resonance imaging autopsy


CEYLANER S., Gozer H., CEYLANER G., Ertas I., Kizilates S., Edguer T.

Genetic Counseling, vol.17, no.2, pp.231-236, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 2
  • Publication Date: 2006
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.231-236
  • Keywords: diaphragmatic hernia, anophthalmia, microphthalmia, FRYNS-SYNDROME, MICROPHTHALMIA, EVENTRATION
  • Lokman Hekim University Affiliated: No

Abstract

We present an infant with diaphragmatic hernia, anophthalmia and cardiac defect evaluated by magnetic resonance imaging (MRI) autopsy. This female infant was born at 39th weeks by vaginal delivery and presented with diaphragmatic hernia, anophthalmia, cardiac defect and died due to respiratory problems at 28th hours of life. MRI autopsy showed internal organ abnormalities including congenital hernia of the left diaphragm, secondary hypoplasia of the left lung, atrial and ventricular septal defect, dilatation of calices of the kidneys, bilateral anophthalmia, hypoplasia of the optic nerves, hyperintensity of pituitary gland possibly due to bleeding and a cyst of the septum pellucidum. This article shows that MRI autopsy is a valuable method for the evaluation of cases with congenital anomalies if autopsy is not possible.