Literature DB >> 16970042

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

S Ceylaner1, H E Gozer, G Ceylaner, I E Ertas, S U Kizilates, T Edguer.   

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.

Entities:  

Mesh:

Year:  2006        PMID: 16970042

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

Authors:  B West; K E Bove; A M Slavotinek
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.