Wilkie A O, Gibbons R J, Higgs D R, Pembrey M E
Unit of Clinical Genetics and Fetal Medicine, The Hospitals for Sick Children, London.
J Med Genet. 1991 Nov;28(11):738-41. doi: 10.1136/jmg.28.11.738.
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.
我们描述了三名患有X连锁α地中海贫血/智力迟钝（ATR-X）综合征的男性（两兄弟和一个堂兄弟）。最初因面部畸形特征与先前病例相似而在两兄弟中怀疑患有该综合征，在存活的兄弟中通过血液学检查得以确诊。该堂兄弟的面部畸形不太典型，常规血常规基本正常，但在他的红细胞中发现了血红蛋白H包涵体，表明他患有同样的疾病。本报告扩展了ATR-X综合征的临床表型，并强调血常规正常并不能排除该诊断。
