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  • Title: Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case.
    Author: Priolo M, Casile G, Laganà C.
    Journal: Clin Dysmorphol; 2004 Jan; 13(1):45-6. PubMed ID: 15127767.
    Abstract:
    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.
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