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Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.

作者信息

Pena S D, Shokeir M H

出版信息

J Pediatr. 1974 Sep;85(3):373-5. doi: 10.1016/s0022-3476(74)80119-8.

DOI:10.1016/s0022-3476(74)80119-8
PMID:4431498
Abstract
摘要

相似文献

1
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.屈曲指、多发性关节强硬、面部畸形和肺发育不全综合征:一种致命病症。
J Pediatr. 1974 Sep;85(3):373-5. doi: 10.1016/s0022-3476(74)80119-8.
2
Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia.关节强硬、面部畸形和肺发育不全综合征。
J Pediatr. 1974 Sep;85(3):375-7. doi: 10.1016/s0022-3476(74)80120-4.
3
Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia--further delineation and evidence for autosomal recessive inheritance.屈曲指、多发性关节强直、面部异常和肺发育不全综合征——常染色体隐性遗传的进一步描述及证据
Birth Defects Orig Artic Ser. 1976;12(5):201-8.
4
Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects.屈曲指、关节强直、面部异常和肺发育不全综合征(佩纳-绍凯尔综合征):产科及超声表现
Am J Obstet Gynecol. 1985 Jun 1;152(3):303-7. doi: 10.1016/s0002-9378(85)80216-7.
5
Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms?
Helv Paediatr Acta. 1978 Apr;33(1):73-9.
6
Syndromes of camptodactyly, multiple ankylosis, facial anomalies, and pulmonary hypoplasia.
Birth Defects Orig Artic Ser. 1978;14(6B):243-51.
7
A syndrome of ankylosis, facial anomalies and pulmonary hypoplasia secondary to fetal neuromuscular dysfunction.
Birth Defects Orig Artic Ser. 1976;12(5):193-200.
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The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.佩纳-绍凯尔综合征:五例报告及该综合征的进一步描述。
Am J Med Genet. 1983 Oct;16(2):213-24. doi: 10.1002/ajmg.1320160211.
9
Syndrome of camptodactyly, facial anomalies, and pulmonary hypoplasia.屈曲指、面部异常和肺发育不全综合征。
J Pediatr. 1978 Jul;93(1):151-2. doi: 10.1016/s0022-3476(78)80633-7.
10
Syndrome of ankylosis, facial anomalies and pulmonary hypoplasia.
Med J Zambia. 1977 Apr-May;11(2):53-5.

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The Pena-Shokeir Syndrome in a Twin Pregnancy: A Rare Case Report.双胎妊娠中的佩纳-绍凯尔综合征:一例罕见病例报告
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2
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.关节挛缩症八家系的临床和遗传学发现。
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Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects.胎儿运动不能变形序列征伴脑桥小脑发育不全、迁移和旋转缺陷。
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Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita.产前超声在胎儿多发性先天性关节挛缩症中的预后意义。
Arch Gynecol Obstet. 2021 Apr;303(4):943-953. doi: 10.1007/s00404-020-05828-4. Epub 2020 Oct 22.
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Pena-Shokeir syndrome: current management strategies and palliative care.佩纳-肖克综合征:当前的管理策略与姑息治疗
Appl Clin Genet. 2018 Oct 25;11:111-120. doi: 10.2147/TACG.S154643. eCollection 2018.
6
Autistic-Like Traits in Pena-Shokeir Syndrome.佩纳-舒克儿综合征的自闭症样特征。
J Autism Dev Disord. 2019 Mar;49(3):1316-1318. doi: 10.1007/s10803-018-3824-2.
7
Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena-Shokeir phenotype.1例佩纳-绍凯尔综合征(Pena-Shokeir phenotype)患者的产前超声检查结果及磁共振成像
Ultrasound. 2017 May;25(2):115-119. doi: 10.1177/1742271X16688235. Epub 2017 Jan 10.
8
Discordant monoamniotic twins with Pena-Shokeir phenotype.具有佩纳-绍凯尔综合征表型的不一致单羊膜囊双胎。
Clin Case Rep. 2016 Aug 18;4(10):919-921. doi: 10.1002/ccr3.651. eCollection 2016 Oct.
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Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.先天性多发性关节挛缩症:临床症状、病因及治疗策略的最新进展
Arch Med Sci. 2016 Feb 1;12(1):10-24. doi: 10.5114/aoms.2016.57578. Epub 2016 Feb 2.
10
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.在MUSK基因中鉴定出一个导致胎儿运动不能性畸形序列的荷兰奠基者突变。
Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24.