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克尔克岛汉哈特侏儒症患者的随访

A follow-up on Hanhart's dwarfs of Krk.

作者信息

Zergollern L

出版信息

Birth Defects Orig Artic Ser. 1971 May;7(6):28-32.

PMID:5173178
Abstract

Krk is the largest of the Yugoslav islands. On it, due to isolation and consanguineous marriages, certain hereditary diseases such as dwarfism, albinism and a progressive spastic quadriplegia associated with cataracts and mental defect, appear more frequently than in the rest of the population. In this short review, the primary concern is with the first of the disorders. Evidence is presented that Hanhart's dwarfs, as they have been called, have recessively inherited panhypopituitarism.

摘要

克尔克岛是南斯拉夫最大的岛屿。由于与世隔绝和近亲结婚,某些遗传性疾病,如侏儒症、白化病以及一种伴有白内障和智力缺陷的进行性痉挛性四肢瘫痪,在该岛上比在其他人群中更为常见。在这篇简短的综述中,主要关注的是第一种疾病。有证据表明,所谓的汉哈特侏儒症患者患有隐性遗传性全垂体功能减退症。

相似文献

1
A follow-up on Hanhart's dwarfs of Krk.克尔克岛汉哈特侏儒症患者的随访
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Skull changes in pituitary dwarfism and the syndrome of familial dwarfism with high plasma immunoreactive growth hormone--a Roentgenologic study.垂体性侏儒症及伴有高血浆免疫反应性生长激素的家族性侏儒症综合征的颅骨改变——一项X线研究
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X-linked congenital panhypopituitarism.X连锁先天性全垂体功能减退症
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Incidence of growth lines in psychosocial dwarfs and idiopathic hypopituitarism.心理社会侏儒症和特发性垂体功能减退症中生长线的发生率。
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Pituitary dwarfism with high serum levels of growth hormone.
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Pituitary dwarfism in German shepherd dogs: additional evidence of simple, autosomal recessive inheritance.德国牧羊犬的垂体性侏儒症:简单常染色体隐性遗传的更多证据。
Nord Vet Med. 1976 Oct;28(10):481-6.
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Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss.伴有感音神经性听力损失的舌下-指发育不全(汉哈特氏)综合征
Turk J Pediatr. 1994 Oct-Dec;36(4):347-52.
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Genetic forms of pituitary dwarfism.
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