Acrodysostosis A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing (original) (raw)

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.

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References

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Authors and Affiliations

1. Department of Diagnostic Radiology, Rigshospitalet (University Hospital of Copenhagen), Copenhagen, Denmark
   Susanne Reiter
2. Department of Pediatrics, Rigshospitalet (University Hospital of Copenhagen), 9, Blegdamsvej, DK-2100, Copenhagen, Denmark
   Susanne Reiter

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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

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• Issue date: March 1978
• DOI: https://doi.org/10.1007/BF00975340

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