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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
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)
Arkless, R., Graham, B.: An unusual case of brachydactyly. Am. J. Roentgenol. Radium Ther. Nucl. Med.99, 724 (1967)
Giedion, A.: Die periphere Dysostose (PD) — ein Sammelbegriff. Fortschr. Geb. Roentgenstr. Nuklearmed.110, 507 (1969)
Giedion, A.: Acrodysplasias. Prog. Pediatr. Radiol.4, 325 (1973)
Maroteaux, P., Malamut, G.: L'acrodysostose. Presse Méd.76, 2189 (1968)
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)
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)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Reiter, S. Acrodysostosis A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. Pediatr Radiol 7, 53–55 (1978). https://doi.org/10.1007/BF00975340
Issue Date:
DOI: https://doi.org/10.1007/BF00975340