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伴有指甲发育异常的遗传性短指畸形。

Hereditary brachydactyly with nail dysplasia.

作者信息

Schott G D

出版信息

J Med Genet. 1978 Apr;15(2):119-22. doi: 10.1136/jmg.15.2.119.

DOI:10.1136/jmg.15.2.119
PMID:641944
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013659/
Abstract

A family is described in which sometimes asymmetrical brachydactyly, with nail dysplasia of the involved fingers, has been transmitted through 6 generations affecting 6 males and 15 females. The thumbs and feet have been normal. This previously unreported condition is inherited as an autosomal disorder with full penetrance and variable expressivity, and causes only minor inconvenience.

摘要

描述了一个家族,其中有时会出现不对称性短指畸形,受累手指伴有指甲发育异常,这种情况已在6代人中遗传,影响了6名男性和15名女性。拇指和足部正常。这种以前未报道过的病症作为一种常染色体疾病遗传,具有完全外显率和可变表达性,仅造成轻微不便。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/395b648303ac/jmedgene00297-0037-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/26519837a301/jmedgene00297-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/088b14e7da5c/jmedgene00297-0037-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/4a360190fcde/jmedgene00297-0037-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/395b648303ac/jmedgene00297-0037-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/26519837a301/jmedgene00297-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/088b14e7da5c/jmedgene00297-0037-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/4a360190fcde/jmedgene00297-0037-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd17/1013659/395b648303ac/jmedgene00297-0037-c.jpg

相似文献

1
Hereditary brachydactyly with nail dysplasia.伴有指甲发育异常的遗传性短指畸形。
J Med Genet. 1978 Apr;15(2):119-22. doi: 10.1136/jmg.15.2.119.
2
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly.常染色体显性遗传性甲营养不良伴无甲症,合并B型短指(趾)畸形和缺指(趾)畸形。
Clin Genet. 1986 Sep;30(3):219-25. doi: 10.1111/j.1399-0004.1986.tb00598.x.
3
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.
Clin Genet. 1979 Feb;15(2):160-6. doi: 10.1111/j.1399-0004.1979.tb01755.x.
4
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.成人综合征:一种常染色体显性疾病,伴有色素异常、缺指(趾)畸形、指甲发育异常和牙发育不全。
Am J Med Genet. 1993 Mar 1;45(5):642-8. doi: 10.1002/ajmg.1320450525.
5
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?额鼻发育不良、冠状缝早闭、轴前及轴后多指(趾)畸形和甲裂:一种新的具有外显率降低和可变表达的常染色体显性突变体?
Clin Genet. 1983 Sep;24(3):200-5. doi: 10.1111/j.1399-0004.1983.tb02240.x.
6
Two families with congenital nail anomalies: Nail formation in ectopic areas.两个患有先天性指甲异常的家族:异位区域的指甲形成。
J Hand Surg Am. 1978 Jul;3(4):348-51. doi: 10.1016/s0363-5023(78)80035-5.
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Familial absence of middle phalanges with nail dysplasia: a new syndrome.伴有指甲发育异常的家族性中节指骨缺失:一种新综合征。
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8
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.ROR2在伴有指甲发育异常的遗传性短指症中发生突变,但在索斯比综合征中未发生突变。
Clin Genet. 2003 Sep;64(3):263-5. doi: 10.1034/j.1399-0004.2003.00139.x.
9
A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.同胞中出现的一种新的侏儒症、短指畸形、指甲发育异常和智力迟钝综合征。
Am J Med Genet. 1990 May;36(1):89-93. doi: 10.1002/ajmg.1320360117.
10
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.身材矮小、短指畸形、指甲发育异常及智力发育迟缓:户之木综合征的进一步观察
Am J Med Genet. 1998 Dec 4;80(4):403-5.

引用本文的文献

1
Brachymorphism-onychodysplasia-dysphalangism syndrome.短指-甲发育不良-指骨发育异常综合征
J Med Genet. 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158.
2
Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.短指(趾)症与多指(趾)症伴皮嵴分离和嵴发育不全。
J Med Genet. 1979 Oct;16(5):402-5. doi: 10.1136/jmg.16.5.402.
3
Hereditary brachydactyly with nail dysplasia.伴有指甲发育异常的遗传性短指症。

本文引用的文献

1
Familial absence of middle phalanges with nail dysplasia: a new syndrome.伴有指甲发育异常的家族性中节指骨缺失:一种新综合征。
Pediatrics. 1968 Aug;42(2):318-23.
2
Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.
J Bone Joint Surg Br. 1971 Feb;53(1):101-5.
J Med Genet. 1979 Jun;16(3):236. doi: 10.1136/jmg.16.3.236.