A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome
Tarih
2009
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Süreli Yayın ISSN
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Yayınevi
Kamla-Raj Enterprises
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.
Açıklama
Anahtar kelimeler
Congenital heart disease, Microphthalmia, Pulmonary agenesis, Matthew-wood-syndrome, Anophthalmia, Hypoplasia, Stra6, Gastroschisis, Mutations, Newborn, Protein, Hernia, Sibs, Genetics & heredity
Alıntı
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.