I型毛发-鼻-指（趾）综合征
Tricho-rhino-phalangeal syndrome type I.
作者信息
Eroğlu Y, Erçal D
机构信息
Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir.
出版信息
Turk J Pediatr. 1996 Oct-Dec;38(4):537-42.
PMID:8993187
Abstract
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.
摘要
I型毛发-鼻-指骨综合征（TRPS I）的特征为鼻球样肥大、毛发稀疏和骨骺锥形改变。提示为常染色体显性和隐性遗传。锥形骨骺的存在是患者因指关节肿胀而产生的主要症状，这需要在各种综合征中进行鉴别诊断。本文描述了一名患有TRPS I的10岁女孩，旨在使该综合征的特征引起医学关注。
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