Tricho-rhino-phalangeal syndrome type I

被引：0
|
作者：
Eroglu, Y
Ercal, D
机构：
来源：
TURKISH JOURNAL OF PEDIATRICS | 1996年 / 38卷 / 04期
关键词：
tricho-rhino-phalangeal syndrome; cone-shaped epiphysis;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.
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页码：537 / 542
页数：6
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