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Pediatric Radiology

, Volume 7, Issue 1, pp 53–55 | Cite as

Acrodysostosis A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing

  • Susanne Reiter
Case Reports

Abstract

Acrodysostosis — a rare congenital malformation syndrome — is described in a 41/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH) — and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.

Key Words

Acrodysostosis Peripheral dysostosis Acromelic syndromes Brachymetacarpism 

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References

  1. 1.
    Ablow, R. C., Hsia, Y. E., Brandt, I. K.: Acrodysostosis coinciding with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Am. J. Roentgenol. Radium Ther. Nucl. Med.128, 95 (1977)Google Scholar
  2. 2.
    Arkless, R., Graham, B.: An unusual case of brachydactyly. Am. J. Roentgenol. Radium Ther. Nucl. Med.99, 724 (1967)PubMedGoogle Scholar
  3. 3.
    Giedion, A.: Die periphere Dysostose (PD) — ein Sammelbegriff. Fortschr. Geb. Roentgenstr. Nuklearmed.110, 507 (1969)Google Scholar
  4. 4.
    Giedion, A.: Acrodysplasias. Prog. Pediatr. Radiol.4, 325 (1973)Google Scholar
  5. 5.
    Maroteaux, P., Malamut, G.: L'acrodysostose. Presse Méd.76, 2189 (1968)Google Scholar
  6. 6.
    Robinow, M., Pfeiffer, R. A., Gorlin, R. J., McKusick V. A., Renuart, A. W., Johnson, G. F., Summit, R. L.: Acrodysostosis. Am. J. Dis. Child.121, 195 (1971)PubMedGoogle Scholar
  7. 7.
    Steinbach, H., Young, D. A.: The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Am. J. Roentgenol. Radium Ther. Nucl. Med.97, 49 (1966)PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • Susanne Reiter
    • 1
    • 2
  1. 1.Department of Diagnostic RadiologyRigshospitalet (University Hospital of Copenhagen)CopenhagenDenmark
  2. 2.Department of PediatricsRigshospitalet (University Hospital of Copenhagen)CopenhagenDenmark

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