Journal of Clinical Imaging Science · 2011 · 26 citations · 7 references
MedicinePediatricsCardiothoracic SurgeryDevelopmental PediatricsPulmonologyCongenital Lung MalformationsCongenital Musculoskeletal DisordersCongenital Organ DefectsCongenital Thoracic AnomaliesPulmonary Agenesis
Pulmonary agenesis is a rare congenital anomaly, the etiology of which is not clearly known. Other systemic comorbidities such as cardiovascular, gastrointestinal, musculoskeletal, and urogenital system anomalies can be observed in more than half of the patients. It is usually diagnosed during childhood. Diagnosis in adulthood is very rare. We present a case of pulmonary agenesis diagnosed in an adult.
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Pulmonary agenesis: Expansion of the VCFS phenotype
Karen Conway, Ronald L. Gibson, Jonathan A. Perkins et al. · American Journal of Medical Genetics · 2002 · 29 citations