Skip to main content
SpringerLink
Log in

Cor pulmonale and acute liver necrosis, due to upper airway obstruction as part of pycnodysostosis

  • Case Reports
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

A male patient with pycnodysostosis suffered from chronic respiratory insufficiency and pulmonary hypertension. This was caused by concomitant upper airway obstruction, resulting from a low implanted uvula and a long soft palate, in combination with glossoptosis and retrognathia due to the flattened mandibular angles. An inter-current respiratory infection gave rise to an acute deterioration, with right-sided heart failure, severe liver damage and coma. Surgical shortening of the soft palate was performed, after which the blood gas values returned to normal.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Andrén L, Dymling JE, Hogeman KE, Wendeberg B (1962) Osteopetrosis Acroosteolytica, a syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull. Acta Chir Scand 124:496–507

    Google Scholar 

  2. Elmore SM (1967) Pychodysostosis: a review. J Bone Joint Surg [Am] 48A:153–162

    Google Scholar 

  3. Maroteaux P, Lamy M (1962) Deux observations d'une affection osseuse condensante: la pycnodysostose. Arch Fr Pediatr 19:267–274

    Google Scholar 

  4. Montanari U (1923) Acondroplasia e disostosi chleidocrania digitale. Chir Organi Mov 7:379–391

    Google Scholar 

  5. Nielsen EL (1974) Pycnodysostosis. Acta Paediatr Scand 63:437–442

    Google Scholar 

  6. Sedano HD, Gorlin RJ, Anderson VE (1968) Pycnodysostosis, clinical and genetical considerations. Am J Dis Child 116:70–77

    Google Scholar 

  7. Sugiura Y, Yamada Y, Koh J (1974) Pycnodysostosis in Japan: Report of six cases and a review of Japanese literature. Birth Defects 10 (12):78–98

    Google Scholar 

  8. Yousefzadeh DK, Agha AS, Reinertson J (1979) Radiographic studies of upper airway obstruction with cor pulmonale in a patient with pycnodysostosis. Pediatr Radiol 8:45–47

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Amsterdam, Academisch Medisch Centrum, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands

    D. C. Aronson & H. S. A. Heymans

  2. Pediatric Intensive Care Unit, University of Amsterdam Academisch Medisch Centrum, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands

    R. P. G. M. Bijlmer

Authors
  1. D. C. Aronson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. S. A. Heymans
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. P. G. M. Bijlmer
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Aronson, D.C., Heymans, H.S.A. & Bijlmer, R.P.G.M. Cor pulmonale and acute liver necrosis, due to upper airway obstruction as part of pycnodysostosis. Eur J Pediatr 141, 251–253 (1984). https://doi.org/10.1007/BF00572773

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00572773

Key words

Search

Navigation