Abstract
Holt–Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects. Pulmonary malformation is not reported to belong to the spectrum of this condition. We report a second case of a newborn with Holt–Oram syndrome who developed severe respiratory insufficiency shortly after birth. We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt–Oram syndrome.
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Smets, K., Mortier, G. & Zecic, A. Unexpected Severe Respiratory Insufficiency in a Newborn with Holt–Oram Syndrome. J Perinatol 25, 745–746 (2005). https://doi.org/10.1038/sj.jp.7211384
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DOI: https://doi.org/10.1038/sj.jp.7211384