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软骨发育不全家族中马德隆畸形的性影响表达。

Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.

作者信息

Lichtenstein J R, Sundaram M, Burdge R

出版信息

J Med Genet. 1980 Feb;17(1):41-3. doi: 10.1136/jmg.17.1.41.

DOI:10.1136/jmg.17.1.41
PMID:7365762
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048486/
Abstract

Dyschondrosteosis is a mesomelic form of short stature which occurs in conjunction with a characteristic wrist deformity. Madelung's deformity. A family with dyschondrosteosis had an affected father and two daughters. The affected females had dyschondrosteosis and Madelung's deformity, while the affected males had dyschondrosteosis, but no Madelung's deformity. All affected members had arthralgias. The occurrence of male to male transmission confirms an autosomal dominant inheritance pattern for this disorder.

摘要

骨干续连症是一种身材短小的中肢发育异常形式,常伴有特征性的腕部畸形,即马德隆畸形。一个患有骨干续连症的家族中有一位患病父亲和两个女儿。患病女性既有骨干续连症又有马德隆畸形,而患病男性有骨干续连症,但没有马德隆畸形。所有患病成员都有关节痛。父子相传的情况证实了该疾病的常染色体显性遗传模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4437/1048486/8c12568fed0c/jmedgene00123-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4437/1048486/368818d1b647/jmedgene00123-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4437/1048486/8c12568fed0c/jmedgene00123-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4437/1048486/368818d1b647/jmedgene00123-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4437/1048486/8c12568fed0c/jmedgene00123-0049-b.jpg

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Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.软骨发育不全家族中马德隆畸形的性影响表达。
J Med Genet. 1980 Feb;17(1):41-3. doi: 10.1136/jmg.17.1.41.
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SHOX mutations.短身材同源框基因(SHOX)突变
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SHOX gene in Leri-Weill syndrome and in idiopathic short stature.Léri-Weill综合征和特发性身材矮小中的SHOX基因。

本文引用的文献

1
DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.软骨发育不全症,一种具有特征性X线表现的可遗传性骨发育异常。
Am J Roentgenol Radium Ther Nucl Med. 1965 Sep;95:178-88. doi: 10.2214/ajr.95.1.178.
2
Dyschondrosteosis. The most common cause of Madelung's deformity.软骨发育不全。马德隆畸形最常见的病因。
J Pediatr. 1966 Mar;68(3):432-41. doi: 10.1016/s0022-3476(66)80247-0.
J Endocrinol Invest. 2001 Oct;24(9):737-41. doi: 10.1007/BF03343919.
4
SHOX haploinsufficiency and overdosage: impact of gonadal function status.矮小同源盒基因半合子不足与剂量过量:性腺功能状态的影响
J Med Genet. 2001 Jan;38(1):1-6. doi: 10.1136/jmg.38.1.1.
5
Pseudoautosomal linkage of Hodgkin disease.霍奇金病的拟常染色体连锁
Am J Hum Genet. 1999 Nov;65(5):1413-22. doi: 10.1086/302608.
6
Genetic and physical mapping of the mouse Ulnaless locus.小鼠无尺骨基因座的遗传与物理图谱
Genetics. 1996 Dec;144(4):1757-67. doi: 10.1093/genetics/144.4.1757.
7
Pyloric stenosis: children vs sibs.幽门狭窄:儿童与同胞对照
J Med Genet. 1983 Apr;20(2):155-6. doi: 10.1136/jmg.20.2.155-a.