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 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2009
  • Doi Number: 10.1080/09723757.2009.11886076
  • Journal Name: INTERNATIONAL JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, EMBASE
  • Page Numbers: pp.255-261
  • Keywords: Microphthalmia, Pulmonary Agenesis, Congenital Heart Disease, MATTHEW-WOOD-SYNDROME, ANOPHTHALMIA, HYPOPLASIA, STRA6, GASTROSCHISIS, MUTATIONS, NEWBORN, PROTEIN, HERNIA, SIBS
  • Bursa Uludag University Affiliated: Yes

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.