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Tracheomalacia in Hallermann-Streiff syndrome.

作者信息

Salbert B A, Stevens C A, Spence J E

机构信息

Department of Human Genetics, Medical College of Virginia, Richmond 23298.

出版信息

Am J Med Genet. 1991 Dec 15;41(4):521-3. doi: 10.1002/ajmg.1320410429.

Abstract

We report on a white boy with Hallermann-Streiff syndrome (HSS) who also had tracheomalacia. Chronic respiratory insufficiency led to biventricular failure and death at age 6 months. There have been no previously reported cases of Hallermann-Streiff syndrome with documented tracheomalacia. However, there may be cases in which tracheomalacia may have been present, but not diagnosed. The literature contains 6 HSS cases with severe respiratory symptoms. Tracheomalacia should be considered in a patient with HSS who presents with an unusual cry, stridor, choking, or apnea. With the availability of surgery and supportive treatment, early diagnosis of tracheomalacia in these patients may prevent death and secondary neurologic insult from acute hypoxia.

摘要

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