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一名儿童同时存在皮埃尔·罗宾序列征、异位肾及双侧发育性髋关节发育不良——一例罕见病例报告

Pierre Robin sequence coexisting with ectopic kidney, bilateral developmental hip dysplasia in a child - A rare case report.

作者信息

Mishra Eshaan, Rana Rajesh, Sahoo Sarthak

机构信息

Department of Orthopaedics, SCB Medical College & Hospital, Cuttack, Odisha, India.

出版信息

J Clin Orthop Trauma. 2024 Jan 14;49:102336. doi: 10.1016/j.jcot.2024.102336. eCollection 2024 Feb.

DOI:10.1016/j.jcot.2024.102336
PMID:38323076
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10840301/
Abstract

Pierre Robin sequence is a rare congenital disorder with variable associations. A two-year-old female child was brought in with complaints of an abnormal gait and right lower limb shortening. A comprehensive clinical evaluation unveiled facial characteristics resembling those of Pierre Robin Sequence, including micrognathia, a cleft palate, and glossoptosis. The child also exhibited retrognathia, a low posterior hairline, bilateral developmental dysplasia of the hips, right foot syndactyly, and a left ectopic kidney as confirmed by ultrasonography. Radiological examination showed bilateral developmental dysplastic hips. The connection between Pierre Robin sequence and the presence of bilateral dysplastic hips and an ectopic kidney is an unusual and rare combination.

摘要

皮埃尔·罗宾序列征是一种罕见的先天性疾病,伴有多种相关病症。一名两岁女童因步态异常和右下肢缩短前来就诊。全面的临床评估发现其面部特征与皮埃尔·罗宾序列征相似,包括小颌畸形、腭裂和舌后坠。该患儿还表现出下颌后缩、后发际线低、双侧髋关节发育不良、右足并趾以及经超声检查确诊的左异位肾。放射学检查显示双侧髋关节发育不良。皮埃尔·罗宾序列征与双侧发育不良性髋关节及异位肾同时存在是一种不寻常且罕见的组合。

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1
Pierre Robin sequence coexisting with ectopic kidney, bilateral developmental hip dysplasia in a child - A rare case report.一名儿童同时存在皮埃尔·罗宾序列征、异位肾及双侧发育性髋关节发育不良——一例罕见病例报告
J Clin Orthop Trauma. 2024 Jan 14;49:102336. doi: 10.1016/j.jcot.2024.102336. eCollection 2024 Feb.
2
Tri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.三叶舌:罕见表现伴随 Pierre Robin 序列。
J Craniofac Surg. 2023 May 1;34(3):e228-e230. doi: 10.1097/SCS.0000000000009116. Epub 2022 Nov 2.
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[Ophthalmologic manifestations of the Pierre Robin syndrome. Report of a case of microphthalmia].[皮埃尔·罗宾综合征的眼科表现。一例小眼症病例报告]
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Clinical attitude to the patient with Non-syndromic Pierre Robin Sequence with the cleft of soft palate and uvula - The necessity of fibroscopic investigation.对患有软腭裂和悬雍垂裂的非综合征性皮埃尔·罗宾序列患者的临床态度——纤维喉镜检查的必要性
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本文引用的文献

1
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.与皮埃尔·罗宾综合征/序列相关的基因突变:一项系统综述
Mol Syndromol. 2021 Apr;12(2):69-86. doi: 10.1159/000513217. Epub 2021 Mar 18.
2
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.斯蒂克勒综合征:临床表现与遗传学评估综述
J Pers Med. 2020 Aug 27;10(3):105. doi: 10.3390/jpm10030105.
3
Associated syndromes in patients with Pierre Robin Sequence.Pierre Robin序列患者的相关综合征。
Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30.
4
Pierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report.一名患有异位肾、多指(趾)畸形和身材矮小儿童的Pierre Robin序列征:病例报告
Cureus. 2019 Dec 27;11(12):e6475. doi: 10.7759/cureus.6475.
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Marshall's syndrome.马歇尔综合征。
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Pierre robin sequence.皮埃尔·罗宾序列。
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Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis.使用三维形态计量分析比较皮埃尔·罗宾序列征和特雷彻·柯林斯综合征的下颌骨发育不全
J Craniofac Surg. 2012 Nov;23(7 Suppl 1):1959-63. doi: 10.1097/SCS.0b013e318258bcf1.
8
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey.遗传性进行性关节眼病(斯蒂克勒综合征)的临床特征:一项调查。
Genet Med. 2001 May-Jun;3(3):192-6. doi: 10.1097/00125817-200105000-00008.