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. 1989 May;26(5):320–325. doi: 10.1136/jmg.26.5.320

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

R M Winter 1, M A Patton 1, J Challener 1, R F Mueller 1, M Baraitser 1
PMCID: PMC1015599  PMID: 2732993

Abstract

Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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