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新型常染色体隐性面指生殖器综合征

New autosomal recessive faciodigitogenital syndrome.

作者信息

Teebi A S, Naguib K K, Al-Awadi S, Al-Saleh Q A

机构信息

Kuwait Medical Genetics Centre, Maternity Hospital.

出版信息

J Med Genet. 1988 Jun;25(6):400-6. doi: 10.1136/jmg.25.6.400.

DOI:10.1136/jmg.25.6.400
PMID:3398008
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050509/
Abstract

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.

摘要

大多数阿尔斯kog面部-指-生殖器综合征的家系提示为X连锁遗传。然而,在一些家族中,性影响常染色体显性遗传也有可能。我们描述了一个阿拉伯家庭,父母为正常近亲,育有五个孩子(三个男孩和两个女孩),这些孩子除了有一些不寻常的毛发变化外,还具有阿尔斯kog综合征的一些特征。本文提出并讨论了这个家族可能代表一种以前未被认识的、伴有身材矮小和毛发异常的独特面部-指-生殖器综合征的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/0b30addfba06/jmedgene00068-0044-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/474c4196d21c/jmedgene00068-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/b3e4e0126e1e/jmedgene00068-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/e379b1d65ab5/jmedgene00068-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/f21e2d549fe8/jmedgene00068-0041-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/37212857580a/jmedgene00068-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/c0b01b1e5a8e/jmedgene00068-0042-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/a0c0a938512d/jmedgene00068-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/b0c169a31cd2/jmedgene00068-0043-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/16d769de7c68/jmedgene00068-0043-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/c10afd66162f/jmedgene00068-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/0b30addfba06/jmedgene00068-0044-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/474c4196d21c/jmedgene00068-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/b3e4e0126e1e/jmedgene00068-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/e379b1d65ab5/jmedgene00068-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/f21e2d549fe8/jmedgene00068-0041-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/37212857580a/jmedgene00068-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/c0b01b1e5a8e/jmedgene00068-0042-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/a0c0a938512d/jmedgene00068-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/b0c169a31cd2/jmedgene00068-0043-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/16d769de7c68/jmedgene00068-0043-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/c10afd66162f/jmedgene00068-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d985/1050509/0b30addfba06/jmedgene00068-0044-b.jpg

相似文献

1
New autosomal recessive faciodigitogenital syndrome.新型常染色体隐性面指生殖器综合征
J Med Genet. 1988 Jun;25(6):400-6. doi: 10.1136/jmg.25.6.400.
2
The Aarskog (facio-digital-genital) syndrome in South Africa. A report of three families.南非的阿斯克格(面-指-生殖器)综合征。三例家族报告。
S Afr Med J. 1984 Feb 25;65(8):299-303.
3
Kuwait type faciodigitogenital syndrome.科威特型面指生殖器综合征
J Med Genet. 1991 Nov;28(11):805. doi: 10.1136/jmg.28.11.805.
4
[Two further cases of faciodigitogenital syndrome (author's transl)].面-指-生殖器综合征的另外两例(作者译)
Monatsschr Kinderheilkd. 1980 Sep;128(9):615-7.
5
Autosomal dominant inheritance of the Aarskog syndrome.
Am J Med Genet. 1983 May;15(1):39-46. doi: 10.1002/ajmg.1320150105.
6
The inheritance of the Aarskog facial-digital-genital syndrome.
J Pediatr. 1975 Jun;86(6):885-91. doi: 10.1016/s0022-3476(75)80219-8.
7
[Aarskog's syndrome. Description of a case and endocrinological study].
Pediatr Med Chir. 1983 Nov-Dec;5(6):613-8.
8
Aarskog syndrome in a Brazilian boy born to consanguineous parents.一名巴西男孩患Aarskog综合征,其父母为近亲结婚。
Am J Med Genet. 1992 Jul 15;43(5):808-10. doi: 10.1002/ajmg.1320430511.
9
[Aarskog's syndrome].
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10
[Aarskog syndrome. A case report].
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引用本文的文献

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A novel frameshift mutation in the gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.导致患有性腺功能减退的Aarskog-Scott综合征患者的基因中出现一种新的移码突变:病例报告。
Transl Pediatr. 2021 May;10(5):1377-1385. doi: 10.21037/tp-21-26.
2
Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.破裂性后交通动脉瘤与阿尔斯科格综合征相关
NMC Case Rep J. 2015 Feb 20;2(3):85-87. doi: 10.2176/nmccrj.2014-0022. eCollection 2015 Jul.
3
Identifying Aarskog Syndrome.识别阿尔斯科格综合征。

本文引用的文献

1
The Aarskog syndrome.阿斯克格综合征
Acta Paediatr Scand. 1980 Jul;69(4):567-70. doi: 10.1111/j.1651-2227.1980.tb07135.x.
2
Aarskog's syndrome.
Arch Dis Child. 1980 Sep;55(9):706-10. doi: 10.1136/adc.55.9.706.
3
Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies.伴有先天性巨结肠、中肠旋转不良和牙齿异常的阿斯克格综合征。
J Med Genet. 1980 Jun;17(3):235-8. doi: 10.1136/jmg.17.3.235.
J Clin Diagn Res. 2016 Dec;10(12):ZD09-ZD11. doi: 10.7860/JCDR/2016/22180.8982. Epub 2016 Dec 1.
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Autosomal recessive disorders among Arabs: an overview from Kuwait.阿拉伯人群中的常染色体隐性疾病:科威特的概述
J Med Genet. 1994 Mar;31(3):224-33. doi: 10.1136/jmg.31.3.224.
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Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.未知综合征:具有类似努南综合征的颅面特征、手指异常和早产。
J Med Genet. 1989 Jul;26(7):470-2. doi: 10.1136/jmg.26.7.470.
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Kuwait type faciodigitogenital syndrome.科威特型面指生殖器综合征
J Med Genet. 1991 Nov;28(11):805. doi: 10.1136/jmg.28.11.805.
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Aarskog syndrome with isolated growth hormone deficiency.
Eur J Pediatr. 1981 Feb;135(3):273-6. doi: 10.1007/BF00442102.
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Aarskog syndrome: full male and female expression associated with an X-autosome translocation.
Am J Med Genet. 1984 Mar;17(3):595-602. doi: 10.1002/ajmg.1320170307.
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Anomalous cerebral venous drainage in Aarskog syndrome.阿斯克格综合征中的异常脑静脉引流。
Clin Genet. 1984 Mar;25(3):288-94. doi: 10.1111/j.1399-0004.1984.tb01991.x.
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The Aarskog (facio-digital-genital) syndrome in South Africa. A report of three families.南非的阿斯克格(面-指-生殖器)综合征。三例家族报告。
S Afr Med J. 1984 Feb 25;65(8):299-303.
8
Metatarsus adductus in two brothers with Aarskog syndrome.两例患有阿尔斯科格综合征的兄弟的内收型跖骨。
J Med Genet. 1983 Dec;20(6):477. doi: 10.1136/jmg.20.6.477.
9
The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance.一个大家庭中的Aarskog综合征,提示常染色体显性遗传。
Clin Genet. 1983 Dec;24(6):439-45. doi: 10.1111/j.1399-0004.1983.tb00100.x.
10
Aarskog syndrome.阿斯克格综合征
Urology. 1983 Dec;22(6):624-6. doi: 10.1016/0090-4295(83)90311-4.