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翼状胬肉综合征

Pterygium syndrome.

作者信息

Gillin M E, Pryse-Davis J

出版信息

J Med Genet. 1976 Jun;13(3):249-51. doi: 10.1136/jmg.13.3.249.

DOI:10.1136/jmg.13.3.249
PMID:933128
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013404/
Abstract

The pterygium syndrome consists of the neck, the antecubital fossae and the popliteal regions together with flexion deformities of the limb joints and anomalies of the vertebrae. A family, three offspring of which appear to be affected with the same disorder, is presented. All three are female; there is also a normal female child of the same union.

摘要

翼状胬肉综合征包括颈部、肘前窝和腘窝区域,以及肢体关节的屈曲畸形和椎体异常。本文报告了一个家庭,其中三个后代似乎患有相同的疾病。这三个都是女性;同一对父母还有一个正常的女性孩子。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/c846391d157d/jmedgene00310-0082-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/b536fbf13eed/jmedgene00310-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/f767706c2b50/jmedgene00310-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/c846391d157d/jmedgene00310-0082-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/b536fbf13eed/jmedgene00310-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/f767706c2b50/jmedgene00310-0082-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8a/1013404/c846391d157d/jmedgene00310-0082-c.jpg

相似文献

1
Pterygium syndrome.翼状胬肉综合征
J Med Genet. 1976 Jun;13(3):249-51. doi: 10.1136/jmg.13.3.249.
2
Familial pterygium syndrome.家族性翼状胬肉综合征
Clin Genet. 1980 Nov;18(5):317-20. doi: 10.1111/j.1399-0004.1980.tb02291.x.
3
Multiple pterygium syndrome: report of one case.多发性翼状胬肉综合征:1例报告。
Acta Paediatr Taiwan. 1999 May-Jun;40(3):192-4.
4
A syndrome of ankylosis, facial anomalies and pulmonary hypoplasia secondary to fetal neuromuscular dysfunction.
Birth Defects Orig Artic Ser. 1976;12(5):193-200.
5
Multiple pterygium syndrome (Escobar syndrome)--a case report.
Singapore Med J. 1994 Apr;35(2):208-10.
6
Multiple pterygium syndrome.
Am J Med Genet. 1980;7(2):91-102. doi: 10.1002/ajmg.1320070203.
7
Malformation complex. Spondylohypoplasia, arthrogryposis, and popliteal pterygium.畸形综合征。脊椎发育不全、关节挛缩和腘窝翼状胬肉。
Am J Dis Child. 1980 Jan;134(1):42-5.
8
A new arthrogryposis syndrome with facial and limb anomalies.
Am J Dis Child. 1975 Jan;129(1):120-2. doi: 10.1001/archpedi.1975.02120380090021.
9
[Multiple pterygium syndrome in children. 7 cases].
Rev Chir Orthop Reparatrice Appar Mot. 1990;76(2):102-11.
10
Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family.
J Maxillofac Surg. 1984 Aug;12(4):174-7. doi: 10.1016/s0301-0503(84)80240-4.

引用本文的文献

1
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor.全外显子组测序在致死型多发性翼状胬肉综合征中的应用:乙酰胆碱受体胚胎亚基突变的鉴定。
Int J Mol Cell Med. 2019 Fall;8(4):258-269. doi: 10.22088/IJMCM.BUMS.8.4.258.
2
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.与多翼状胬肉综合征Escobar变异型严重程度的家族间变异性相关的截短型CHRNG突变。
BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5.
3
Multiple pterygium syndrome.

本文引用的文献

1
Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation.海平面地区活产白人婴儿的宫内生长情况:通过对妊娠25至44周出生婴儿的七个维度测量得出的标准。
J Pediatr. 1969 Jun;74(6):901-10. doi: 10.1016/s0022-3476(69)80224-6.
多发性翼状胬肉综合征
J Med Genet. 1981 Dec;18(6):451-5. doi: 10.1136/jmg.18.6.451.