Skip to main content
SpringerLink
Log in

The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II)

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

Abstract

A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60–80 dB hearing loss).

The genetic aspects of the syndrome are discussed.

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

References

  1. Giedion, A.: Zapfenepiphysen. Ergebn. Med. Radiol. 1, 59–124 (1964)

    Google Scholar 

  2. Giedion, A.: Das Tricho-Rhino-Phalangeale Syndrom. Helv. Pediat. Acta 21, 475–482 (1966)

    Google Scholar 

  3. Giedion, A.: Die peripheren Dysostosen (PD)—ein Sammelbegriff. Fortschr. Röntgenstr. 110, 507–524 (1969)

    Google Scholar 

  4. Giedion, A., Burdea, M., Fruchter, Z., Meloni, T., Trosc, V.: Autosomal dominant transmission of the TRP-syndrome. Helv. Ped. Acta 28, 249–259 (1973)

    Google Scholar 

  5. Gorlin, R. J., Cohen, M. M., Wolfson, J.: TRP syndrome. Am. J. Dis. Child 118, 595–599 (1969)

    Google Scholar 

  6. Hall, B. D., Langer, L. O., Giedion, A., Smith, D. W., Cohen, M. M., Beals, R. K., Brandner, M.: Langer-Giedion syndrome. Birth Defects 10, 147–164 (1974)

    Google Scholar 

  7. Langer, L. O.: The thoracic-pelvic-phalangeal dystrophy. Clinical Delineation of Birth Defects, IV, Skeletal System, New York. National Foundation March of Dimes 55–64 (1969)

  8. Poznanski, A. K., Garn, S. M., Nagy, J. M., Gall, J. C.: Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology 104, 1–11 (1972)

    Google Scholar 

  9. Smith, D. W.: Langer-Giedion syndrome. In: Recognizable patterns of human malformation. Ed. 2. Vol. VII in Series: Major Problems in clinical Pediatrics, pp. 158–159. Philadelphia: W. B. Saunders Company 1976

    Google Scholar 

  10. Solomon, L.: Hereditary multiple exostosis. Am. J. Hum. Genet. 16, 351–363 (1964)

    Google Scholar 

  11. Stoltzfus, E., Ladda, R. L., Lloyd-Still, J.: Langer-Giedion syndrome, type II, TRP. J. Pediatrics 91 (2), 277–280 (1977)

    Google Scholar 

Download references

Author information

Author notes

  1. F. A. Beemer

    Present address: Het Wilhelmina Kinderziekenhuis, University Children's Hospital, Nieuwe Gracht 137, Utrecht, The Netherlands

Authors and Affiliations

  1. Department of Pediatrics, University Hospital of Amsterdam, Binnengasthuis, Amsterdam, The Netherlands

    J. W. E. Oorthuys & F. A. Beemer

Authors
  1. J. W. E. Oorthuys
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. F. A. Beemer
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Address for offrint requests: Department of Pediatrics, University Hospital of Amsterdam, Binnengasthuis, Grimburgwal 10, 1012 GA Amsterdam, The Netherlands

Rights and permissions

Reprints and permissions

About this article

Cite this article

Oorthuys, J.W.E., Beemer, F.A. The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II). Eur J Pediatr 132, 55–59 (1979). https://doi.org/10.1007/BF00443205

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00443205

Key words

Search

Navigation