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一个家族中先天性肌肉发育不全的三种不同表现形式。

Three different manifestations of congenital muscular aplasia in a family.

作者信息

Meberg A, Skogen P

出版信息

Acta Paediatr Scand. 1987 Mar;76(2):375-7. doi: 10.1111/j.1651-2227.1987.tb10484.x.

DOI:10.1111/j.1651-2227.1987.tb10484.x
PMID:3591309
Abstract

This report concerns three different manifestations of congenital muscular aplasia/hypoplasia in a mother (aplasia of the left tensor fasciae latae muscle) and her two children (aplasia of the left depressor anguli oris muscle, right hemidiaphragm hypoplasia), indicating autosomal dominant inheritance with variable expression (pleiotropy) as aetiology for the conditions.

摘要

本报告涉及一位母亲(左侧阔筋膜张肌发育不全)及其两个孩子(左侧降口角肌发育不全、右侧半膈发育不全)先天性肌肉发育不全/发育不良的三种不同表现,提示常染色体显性遗传伴可变表达(多效性)是这些病症的病因。

相似文献

1
Three different manifestations of congenital muscular aplasia in a family.一个家族中先天性肌肉发育不全的三种不同表现形式。
Acta Paediatr Scand. 1987 Mar;76(2):375-7. doi: 10.1111/j.1651-2227.1987.tb10484.x.
2
[The differential diagnosis of facial paralysis in the newborn: congenital hypoplasia of the depressor anguli oris and depressor labii inferioris muscles (author's transl)].新生儿面瘫的鉴别诊断:口降肌和下唇降肌先天性发育不全(作者译)
Wien Klin Wochenschr. 1977 Jun 24;89(13):459-62.
3
Aplasia of the depressor anguli oris muscle: a rare cause of congenital lower lip palsy?降口角肌发育不全:先天性下唇麻痹的罕见病因?
Neuropediatrics. 1998 Aug;29(4):215-9. doi: 10.1055/s-2007-973564.
4
Congenital hypoplasia of depressor anguli oris muscle. A genetically determined condition?降口角肌先天性发育不全。一种由基因决定的病症?
Arch Dis Child. 1974 Dec;49(12):927-31. doi: 10.1136/adc.49.12.927.
5
Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome.降口角肌发育不全或缺失与先天性异常,尤其涉及心面综合征。
S Afr Med J. 1982 Feb 13;61(7):227-31.
6
Congenital aplasia or hypoplasia of the finger extensors.先天性手指伸肌发育不全或发育不良。
Hand. 1975 Feb;7(1):15-21. doi: 10.1016/0072-968x(75)90028-5.
7
Aplasia of the diaphragm.膈肌发育不全
Pediatrics. 1971 Mar;47(3):601-3.
8
[Hypoplasia of the depressor anguli oris muscle: report of 11 cases].[降口角肌发育不全:11例报告]
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1988 Nov-Dec;29(6):416-21.
9
[Diaphragmatic and lung abnormalities (author's transl)].[膈肌与肺部异常(作者译)]
Z Erkr Atmungsorgane. 1975 Feb;142(2):164-72.
10
Congenital absence of gluteal muscles. Report of two sibs.先天性臀肌缺失。两例同胞病例报告。
Clin Genet. 1976 Sep;10(3):135-8. doi: 10.1111/j.1399-0004.1976.tb00025.x.

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Incidental Finding of Unilateral Tensor Fascia Lata Agenesis in a Marathon Runner: An Unreported Phenomenon.马拉松运动员单侧阔筋膜张肌发育不全的偶然发现:一种未报道的现象。
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Femoral head necrosis and progressive osteoarthritis of a healed intracapital osteotomy in a severe sequelae of Legg-Calvé-Perthes disease with aplasia of tensor fasciae latae.股骨头坏死以及已愈合的经股骨颈截骨术的进行性骨关节炎,这是Legg-Calvé-Perthes病的严重后遗症,伴有阔筋膜张肌发育不全。
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