[毛发鼻指综合征。一个五代中有14名特征携带者的家族报告]
[The trichorhinophalangeal syndrome. Report of a family with 14 carriers of characteristics in 5 generations].
作者信息
Tuzovic S, Fiebach B J, Magnus L, Sauerbrei H U
出版信息
Rontgenblatter. 1982 Nov;35(11):391-7.
This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generations points to dominant heredity.
本文报道了一个连续五代出现14例毛发鼻指综合征的家系。除了毛发鼻指综合征的已知特征外，该家系还出现了以下新症状：出牙明显延迟、智力减退以及类似湿疹的皮肤表现。此外，还观察到了颈前甲状腺肿和溃疡性结肠炎。后续观察需要明确这些症状是否是毛发鼻指综合征模式的一个可选部分。这些特征携带者在五代中持续出现，表明为显性遗传。
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