A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome
Date
2009
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Kamla-Raj Enterprises
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
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.