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Genet Couns. 2013;24(3):337-41.

Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

Author information

1
Hacettepe University, Ihsan Dogramaci Children's Hospital, Department of Pediatrics, Ankara, Turkey. stakci@gmail.com
2
Hacettepe University, Ihsan Dogramaci Children's Hospital, Department of Pediatrics, Ankara, Turkey.
3
Hacettepe University School of Medicine, Department of Radiology, Ankara, Turkey.

Abstract

Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome.

PMID:
24341150
[Indexed for MEDLINE]
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