Publication: A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome
Date
Authors
Demirkaya, Metin
Sevinir, Betül
Canıtez, Yakup
Bostan, Özlem
Yıldız, Meral
Authors
Advisor
Language
Type
Publisher:
Kamla-Raj Enterprises
Journal Title
Journal ISSN
Volume Title
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.
Description
Source:
Keywords:
Keywords
Congenital heart disease, Microphthalmia, Pulmonary agenesis, Matthew-wood-syndrome, Anophthalmia, Hypoplasia, Stra6, Gastroschisis, Mutations, Newborn, Protein, Hernia, Sibs, Genetics & heredity
Citation
Demirkaya, M. vd. (2009). "A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome". International Journal of Human Genetics, 9(3-4), 255-261.