凯特尔综合征。一例报告并文献复习。
The Keutel syndrome. Report of a case and review of the literature.
作者信息
Ziereisen F, De Munter C, Perlmutter N
机构信息
Department of Radiology, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
出版信息
Pediatr Radiol. 1993;23(4):314-5. doi: 10.1007/BF02010925.
PMID:8414764
Abstract
A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported; we report the seventh case and discuss the clinical findings and the incidence of the disease.
摘要
一名2个月大的男婴出现软骨钙化、短指畸形、外周肺动脉狭窄、听力丧失、身材矮小和轻度精神运动发育迟缓。该病例与1972年Keutel描述的两例病例相似。自那时以来，又报告了另外4例病例；我们报告第7例病例，并讨论其临床发现及该病的发病率。
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