A Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome


Demirkaya M., Sevinir B., Canitez Y., Bostan O., Yildiz M.

INTERNATIONAL JOURNAL OF HUMAN GENETICS, vol.9, pp.255-261, 2009 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2009
  • Doi Number: 10.1080/09723757.2009.11886076
  • Title of Journal : INTERNATIONAL JOURNAL OF HUMAN GENETICS
  • Page Numbers: pp.255-261

Abstract

The combination of pulmonary agenesis and anophtalmia or microphthalmia has been described previously. This condition is known as Matthew-Wood syndrome and PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, aophthalmia/microphthalmia, and cardiac defect). We report a sporadic case of female infant with the combination of bilateral microphthalmia, unilateral right pulmonary agenesis and diaphragmatic eventration in addition to atrial septal defect (ASD) suggesting PDAC syndrome.