Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case.
Diaphragmatic defects with associated pulmonary hypoplasia/agenesis and anophthalmia/microphthalmia have been reported as part of a complex syndromic phenotype. We report a case with the combination of these malformations.
Priolo
Manuela
M
Casile
Girolama
G
Laganà
Carmelo
C
D000015:Abnormalities, Multiple; D006548:Hernia, Diaphragmatic / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome; D013997:Time Factors