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Case Reports
. 1991 Nov;28(11):738-41.
doi: 10.1136/jmg.28.11.738.

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males

A O Wilkie  1 , R J Gibbons, D R Higgs, M E Pembrey
Affiliations
Case Reports

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males

A O Wilkie et al. J Med Genet. 1991 Nov.

Abstract

We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.

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References

    1. J Med Genet. 1990 May;27(5):339-40 - PubMed
    1. J Med Genet. 1991 Oct;28(10):724 - PubMed
    1. J Med Genet. 1991 Nov;28(11):729-33 - PubMed
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