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Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome.

作者信息

Fryns J P, van Fleteren A, Mattelaer P, van den Berghe H

出版信息

Eur J Pediatr. 1984 Aug;142(3):201-3. doi: 10.1007/BF00442449.

Abstract

A 13-year-old slightly mentally retarded female is reported with diffuse calcification of the cartilage, brachytelephalangy, mixed hearing loss and peripheral pulmonary stenosis. The present observation confirms the existence of the Keutel syndrome as a distinct syndrome, with probable autosomal recessive inheritance.

摘要

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