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妖精貌综合征:两例报告及文献复习

Leprechaunism: report of two cases and review.

作者信息

Ioan D, Dumitriu L, Belengeanu V, Bistriceanu M, Maximilian C

机构信息

C. I. Parhon Institute of Endocrinology, Bucharest, Romania.

出版信息

Endocrinologie. 1988 Jul-Sep;26(3):205-9.

PMID:3062757
Abstract

Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.

摘要

报告了两例新的拉普-拉普综合征病例,其中一例来自近亲结婚的父母。两例病例均呈现出该综合征的典型临床症状:严重的产前和产后生长发育迟缓、智力发育迟缓、缺乏脂肪组织、皮肤松弛;面容如小精灵,耳朵大,眼睛呈球状,眼距增宽,小颌畸形以及不同程度的外生殖器肥大。内分泌方面,其中一名患者表现出低T3综合征。本文讨论了内分泌改变在该综合征病因学中的作用。

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