“Down” Syndrome and “Di George” Syndrome: a Case Report

Authors

  • O. Falup-Pecurariu Transilvania University of Brasov, Romania
  • L. Mirica University Children’s Hospital, Brasov, Romania
  • M. Georgescu University Children’s Hospital, Brasov, Romania
  • V. Monescu Transilvania University of Brasov, Romania
  • C. Falup-Pecurariu Transilvania University of Brasov, Romania

Keywords:

Down syndrome, Di George syndrome, diagnoses

Abstract

We present a case report of a newborn girl that was admitted at the University Childrens Hospital Brasov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syndrome is associated with multiple malformations but was rarely associated with Di George syndrome in the literature. We also review the main issues related with these diagnoses.

Author Biographies

O. Falup-Pecurariu, Transilvania University of Brasov, Romania

Faculty of Medicine;
University Children’s Hospital, Brasov, Romania

V. Monescu, Transilvania University of Brasov, Romania

Faculty of Mathematics and Informathics

C. Falup-Pecurariu, Transilvania University of Brasov, Romania

Faculty of Medicine

Downloads

Published

2014-01-07

Issue

Section

MEDICAL SCIENCES