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. 1990 Sep;47(3):446–453.

Allan-Herndon syndrome. I. Clinical studies.

R E Stevenson 1, H O Goodman 1, C E Schwartz 1, R J Simensen 1, W T McLean Jr 1, C N Herndon 1
PMCID: PMC1683863  PMID: 2393019

Abstract

A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Twenty-nine males have been affected in seven generations. Clinical features include severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, and Babinski reflexes. The facies appear elongated with normal head circumference, bitemporal narrowing, and large, simple ears. Contractures develop at both small and large joint. Statural growth is normal and macroorchidism does not occur. Longevity is not impaired. High-resolution chromosomes, serum creatine kinase, and amino acids are normal. This condition, termed the Allan-Herndon syndrome, appears distinct from other X-linked disorders having mental retardation, muscle hypoplasia, and spastic paraplegia.

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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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