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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Unexpected Severe Respiratory Insufficiency in a Newborn with Holt–Oram Syndrome

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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References

  1. Holt M, Oram S . Familial heart disease with skeletal malformations. Br Heart J 1960;22:236–242.

    Article  CAS  Google Scholar 

  2. Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt–Oram syndrome. Nat Genet 1997;15:30–35.

    Article  CAS  Google Scholar 

  3. Basson CT, Cowley GS, Solomon SD, et al. The clinical and genetic spectrum of the Holt–Oram syndrome (heart–hand syndrome). N Engl J Med 1994;330:885–891.

    Article  CAS  Google Scholar 

  4. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID . Holt–Oram syndrome: a clinical genetic study. J Med Genet 1996;33:300–307.

    Article  CAS  Google Scholar 

  5. Sletten LJ, Pierpont ME . Variation in severity of cardiac disease in Holt–Oram syndrome. Am J Med Genet 1996;65:128–132.

    Article  CAS  Google Scholar 

  6. Kullmann F, Koch R, Feichtinger W, et al. Holt–Oram Syndrom in Kombination mit reziproker Translokation, Lungenhypoplasie und Kardiomyopathie. Klin Pädiatr 1993;205:185–189.

    Article  CAS  Google Scholar 

  7. Gibson-Brown JJ, Agulnik SI, Silver LM, Papaioannou VE . Expression of T-box genes Tbx2–Tbx5 during chick organogenesis. Mech Dev 1998;74:165–169.

    Article  CAS  Google Scholar 

  8. Chapman DL, Garvey N, Hancock S, et al. Expression of the T-box family genes, Tbx1–Tbx5, during early mouse development. Dev Dyn 1996;206:379–390.

    Article  CAS  Google Scholar 

  9. Kalinichenko VV, Lim L, Beer Stolz D, et al. Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor. Dev Biol 2001;235:489–507.

    Article  CAS  Google Scholar 

  10. Cebra-Thoams JA, Bromer J, Gardner R, et al. T-box gene products are required for mesenchymal induction of epithelial branching in the embryonic mouse lung. Dev Dyn 2003;226:82–90.

    Article  Google Scholar 

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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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