Blomquist H K, Bäck O, Fagerlund M, Holmgren G, Stecksén-Blicks C
Department of Paediatrics, University Hospital, Umeå, Sweden.
Acta Paediatr Scand. 1991 Dec;80(12):1241-5. doi: 10.1111/j.1651-2227.1991.tb11817.x.
A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle-niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature.
本文介绍了一例新的瑞典Tay或IBIDS综合征病例。该男孩有生长发育和智力迟缓、先天性鱼鳞病及脆发。他是一对叔侄与侄女婚姻中的独子。该男孩反复感染,3岁时死于肺炎。通过文献研究列出了15例病例的临床资料。