[Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex].
Two brothers are presented who were previously diagnosed to have atypical Smith-Lemli-Opitz syndrome. On repeated examinations, however, the facial anomalies of the patients suggested that they would have rather alpha-thalassaemia/mental retardation syndrome. The presence of hemoglobin H inclusions in the peripheral red blood cell supported the clinical suspicion. The search for hemoglobin H inclusions should be considered as a screening test when evaluating mentally retarded boys.
Pécsi Orvostudományi Egyetem Gyermekklinika Pécs.
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E
Morava
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G
Kosztolányi
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008844:Micrognathism / Q000235:genetics; D013577:Syndrome; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*