Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities

Journal of Perinatology volume 34, pages 326–328 (2014)Cite this article

Subjects

Abstract

Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

Similar content being viewed by others

References

  1. Bishop NB, Stankiewicz P, Steinhorn RH . Alveolar capillary dysplasia. Am J Respir Crit Care Med 2011; 184 (2): 172–179.

    Article  Google Scholar 

  2. Ahmed S, Ackerman V, Faught P, Langston C . Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. Pediatr Crit Care Med 2008; 9 (6): 43–46.

    Article  Google Scholar 

  3. Shankar V, Haque A, Johnson J, Pietsch J . Late presentation of alveolar capillary dysplasia in an infant. Pediatr Crit Care Med 2006; 7 (2): 177–179.

    Article  Google Scholar 

  4. Shimizu T, Fukuda T, Inomata S, Satsumae T, Tanaka M . A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. J Anesth 2011; 25 (2): 298–300.

    Article  Google Scholar 

  5. Lane JR, Siwik E, Preminger T, Stork E, Spector M . Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease. Am J Cardiol 1999; 84 (5): 618–620.

    Article  CAS  Google Scholar 

  6. Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA . Expanding the phenotype of alveolar capillary dysplasia. J Pediatr 2004; 145 (5): 646–651.

    Article  Google Scholar 

  7. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009; 84 (6): 780–791.

    Article  CAS  Google Scholar 

  8. Shaw-Smith C . Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet 2010; 53 (1): 6–13.

    Article  Google Scholar 

  9. Madison BB, McKenna LB, Dolson D, Epstein DJ, Kaestner KH . FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine. J Biol Chem 2009; 284 (9): 5936–5944.

    Article  CAS  Google Scholar 

  10. Kalinichenko VV, Gusarova GA, Kim IM, Shin B, Yoder HM, Clark J et al. Foxf1 haploinsufficiency reduces Notch-2 signaling during mouse lung development. Am J Physiol Lung Cell Mol Physiol 2004; 286 (3): L521–L530.

    Article  CAS  Google Scholar 

  11. Beh J, Shi W, Levine M, Davidson B, Christiaen L . FoxF is essential for FGF-induced migration of heart progenitor cells in the ascidian Ciona intestinalis. Development 2007; 134 (18): 297–305.

    Article  Google Scholar 

  12. Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR et al. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet 2013; 50 (3): 163–173.

    Article  CAS  Google Scholar 

  13. Yu S, Shao L, Kilbride H, Zwick DL . Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am J Med Genet A 2010; 152 (5): 1257–1262.

    Article  Google Scholar 

  14. Zufferey F, Martinet D, Osterheld MC, Niel-Bütschi F, Giannoni E, Besuchet SN et al. 16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn. Pediatr Crit Care Med 2011; 12 (6): 427–432.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA

    V Bellamkonda-Athmaram, D G Basel, G G Konduri & M A Basir

  2. Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, USA

    C G Sulman

  3. Department of Pathology, Medical College of Wisconsin, Milwaukee, USA

    J Southern

Authors
  1. V Bellamkonda-Athmaram
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C G Sulman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. D G Basel
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J Southern
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. G G Konduri
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M A Basir
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M A Basir.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bellamkonda-Athmaram, V., Sulman, C., Basel, D. et al. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. J Perinatol 34, 326–328 (2014). https://doi.org/10.1038/jp.2013.175

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2013.175

Keywords

This article is cited by

Search

Advanced search

Quick links