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[一种罕见的多形性综合征:矮妖精貌综合征。文献报道的49例病例综述]

[A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature].

作者信息

Cantani A, Ziruolo M G, Tacconi M L

机构信息

Département de Pédiatrie, Université de Rome La Sapienza, Italie.

出版信息

Ann Genet. 1987;30(4):221-7.

PMID:3322162
Abstract

Leprechaunism is a very rare condition of obscure etiology. Since the first report (Donohue, 1948) 48 patients have been described. The typical stigmata are a "gnome" facies with a saddle nose, broad mouth, large and low-set ears, hirsutism, cutis laxa with atrophy of adipose tissue, dwarfism, extreme wasting, and dysphagia requiring parenteral feeding. After reviewing the literature and discussing the morphological, biological, and etiopathogenetic aspects, the authors conclude that the diagnosis of leprechaunism is essentially a clinic one, as there are no specific laboratory tests.

摘要

妖精貌综合征是一种病因不明的极为罕见的病症。自首次报告(多诺霍,1948年)以来,已描述了48例患者。典型的体征包括“侏儒”面容,伴有鞍鼻、阔嘴、大且低位耳、多毛症、皮肤松弛伴脂肪组织萎缩、侏儒症、极度消瘦以及需要肠外营养的吞咽困难。在回顾文献并讨论形态学、生物学和病因发病学方面后,作者得出结论,妖精貌综合征的诊断本质上是临床诊断,因为没有特异性实验室检查。

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