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X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
  1. A O Wilkie,
  2. R J Gibbons,
  3. D R Higgs,
  4. M E Pembrey
  1. Unit of Clinical Genetics and Fetal Medicine, The Hospitals for Sick Children, London.


    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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