Sibling recurrence of total anomalous pulmonary venous drainage.

  title={Sibling recurrence of total anomalous pulmonary venous drainage.},
  author={John Henry McDermott and D D D Study and Jill Clayton-Smith},
  journal={European journal of medical genetics},
  volume={60 5},
Many childhood syndromic disorders are associated with congenital heart defects, but few present specifically with total anomalous pulmonary venous drainage (TAPVD). Here, we report two siblings presenting with TAPVD, tracheo-oesophageal fistula and dysmorphic features in the neonatal period. Careful examination of the mother revealed subtle facial asymmetry and a pre-auricular tag, suggesting a potential variable expression of a dominant disorder. Whole exome sequencing identified a pathogenic… CONTINUE READING
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