PULMONARY AGENESIS AND PULMONARY SLING ANOMALY IN AN INFANT WITH DOWN SYNDROME

Takci S., Yigit S., Haliloglu M., Bodurogu K., Kiper N.

GENETIC COUNSELING, vol.24, no.3, pp.337-341, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2013
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.337-341
  • Hacettepe University Affiliated: Yes

Abstract

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