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, cilt.9, ss.255-261, 2009 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1080/09723757.2009.11886076
  • Dergi Adı: INTERNATIONAL JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, EMBASE
  • Sayfa Sayıları: ss.255-261
  • Anahtar Kelimeler: Microphthalmia, Pulmonary Agenesis, Congenital Heart Disease, MATTHEW-WOOD-SYNDROME, ANOPHTHALMIA, HYPOPLASIA, STRA6, GASTROSCHISIS, MUTATIONS, NEWBORN, PROTEIN, HERNIA, SIBS
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.