X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family
Lefort, G.; Taib, J.; Toutain, A.; Houdayer, C.; Moraine, C.I.; Humeau, C.; Sarda, P.
Annales de Genetique 36(4): 200-205
1993
ISSN/ISBN: 0003-3995 PMID: 8166424 Document Number: 417451
Three male patients with X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome in a large French family are reported. Diagnosis was suspected on particular craniofacial dysmorphism associated with severe mental retardation and X-linked transmission. Hematological investigations, and in particular presence of Hb H inclusions in two of the boys, confirmed diagnosis. The clinical, hematological and radiological features are discussed in order to better define what appears to be a characteristic phenotype.