2022-04-222022-04-222009Demirkaya, 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), 255-261.0972-3757https://doi.org/10.1080/09723757.2009.11886076https://www.tandfonline.com/doi/abs/10.1080/09723757.2009.11886076http://hdl.handle.net/11452/25998The 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.eninfo:eu-repo/semantics/closedAccessCongenital heart diseaseMicrophthalmiaPulmonary agenesisMatthew-wood-syndromeAnophthalmiaHypoplasiaStra6GastroschisisMutationsNewbornProteinHerniaSibsGenetics & heredityArticle0002735473000072-s2.0-7604908502625526193-4Genetics & heredityMicrophthalmia; Coloboma; PhenotypeArticleCase reportCesarean sectionComputer assisted tomographyCongenital heart malformationDiaphragm eventrationDiaphragm herniaEchocardiographyFamily historyFemaleHeart atrium septum defectHumanInfantKaryotypeLung agenesisMatthew Wood syndromeMicrophthalmiaMultiple malformation syndromeNuclear magnetic resonance imagingSyndrome delineationSyndrome PDACThorax radiography