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四兄弟中出现的遗传性双手联带运动,合并低促性腺激素性性腺功能减退和嗅觉缺失。

Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers.

作者信息

Conrad B, Kriebel J, Hetzel W D

出版信息

J Neurol. 1978 Aug 25;218(4):263-74. doi: 10.1007/BF00312882.

DOI:10.1007/BF00312882
PMID:81275
Abstract

A new genetic syndrome of the combined occurrence of hypogonadotropic hypogonadism, anosmia (Kallmann syndrome) and congenital mirror movements in four brothers is presented. Mirror movements were manifest only within the distal parts of the upper extremities and resembled congenital mirror movements described for isolated or familial cases or those occurring in combination with other genetic defects. The hypothesis is supported, that a midline fusion disorder with preponderance of uncrossed pyramidal tract fibers is a major pathogenetic factor for the occurrence of congenital mirror movements.

摘要

本文报告了一个新的遗传综合征,该综合征表现为四名兄弟同时出现低促性腺激素性性腺功能减退、嗅觉缺失(卡尔曼综合征)和先天性镜像运动。镜像运动仅在上肢远端出现,类似于孤立或家族性病例中描述的先天性镜像运动,或与其他遗传缺陷合并出现的镜像运动。有观点认为,以未交叉的锥体束纤维占优势的中线融合障碍是先天性镜像运动发生的主要致病因素,这一假说得到了支持。

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Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers.四兄弟中出现的遗传性双手联带运动,合并低促性腺激素性性腺功能减退和嗅觉缺失。
J Neurol. 1978 Aug 25;218(4):263-74. doi: 10.1007/BF00312882.
2
Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers.
Ann Neurol. 1992 Mar;31(3):299-304. doi: 10.1002/ana.410310312.
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Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.特发性促性腺激素缺乏症:通过表型特征解决的遗传学问题。
Clin Endocrinol (Oxf). 2001 Aug;55(2):163-74. doi: 10.1046/j.1365-2265.2001.01277.x.
4
Mirror movement: application of movement-related cortical potentials.镜像运动:与运动相关的皮层电位的应用
Ann Neurol. 1984 Mar;15(3):299-302. doi: 10.1002/ana.410150317.
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Kallmann syndrome associated with choanal atresia.卡尔曼综合征合并后鼻孔闭锁
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[Familial hypogonadism with anosmia: Kallmann Syndrome].[伴有嗅觉缺失的家族性性腺功能减退:卡尔曼综合征]
Monatsschr Kinderheilkd. 1983 Apr;131(4):232-4.
7
Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome.伴有嗅觉缺失的低促性腺激素性性腺功能减退症:卡尔曼综合征。
Birth Defects Orig Artic Ser. 1971 May;7(6):166-71.
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Familial hypogonadotropic hypogonadism with anosmia.伴有嗅觉缺失的家族性低促性腺激素性性腺功能减退症
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[Genetic considerations on Kallmann's syndrome (hypogonadotropic hypogenitalism with anosmia)].
Rev Med Suisse Romande. 1978 May;98(5):237-41.
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[Proceedings: Hypogonadotropic hypogonadism with anosmia (Kallman-De Morsier syndrome) in 2 brothers, one of whom had XXY gonosomy (author's transl)].[病例报告:两兄弟患伴有嗅觉缺失的低促性腺激素性性腺功能减退(卡尔曼-德莫西埃综合征),其中一人为XXY性染色体组成(作者译)]
Ann Endocrinol (Paris). 1975 Nov-Dec;36(6):345-6.

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本文引用的文献

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PERSISTENT MIRROR-MOVEMENTS AS A HEREDO-FAMILIAL DISORDER.持续性镜像运动作为一种遗传-家族性疾病。
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Hereditary mirror movements; report of case.遗传性镜像运动;病例报告。
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The Klippel-Feil Syndrome.克-费综合征
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