一例腘窝翼状胬肉综合征患者的并指畸形与阻塞性呼吸暂停
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
作者信息
Posey Jennifer E, Dariya Vedanta, Edmonds Joseph L, Lee Edward I, Probst Frank J, Premkumar Muralidhar H
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA,
出版信息
Eur J Pediatr. 2014 Dec;173(12):1741-4. doi: 10.1007/s00431-014-2453-9. Epub 2014 Nov 12.
Abstract
UNLABELLED
We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy.
CONCLUSION
This report illustrates the potential for airway compromise in PPS patients and the need for thorough neonatal airway assessment.
摘要
未标注
我们描述了一名患有腘窝翼状胬肉、并指（趾）畸形、唇腭裂和下颌后缩的婴儿，诊断为腘窝翼状胬肉综合征（PPS）。新生儿期因严重的阻塞性呼吸暂停而病情复杂，需要进行气管切开术。
结论
本报告说明了PPS患者气道受损的可能性以及对新生儿气道进行全面评估的必要性。
相似文献
1
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.一例腘窝翼状胬肉综合征患者的并指畸形与阻塞性呼吸暂停
Eur J Pediatr. 2014 Dec;173(12):1741-4. doi: 10.1007/s00431-014-2453-9. Epub 2014 Nov 12.
2
Popliteal Pterygium Syndrome With Syngnathia.伴有并指（趾）畸形的腘窝翼状胬肉综合征
J Craniofac Surg. 2017 May;28(3):e250-e251. doi: 10.1097/SCS.0000000000003473.
3
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.一名患有腘窝翼状胬肉综合征的摩洛哥患者的临床及分子学发现：病例报告
J Med Case Rep. 2014 Dec 29;8:471. doi: 10.1186/1752-1947-8-471.
4
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.范德伍德综合征和腘窝翼状胬肉综合征：一个三代家族中IRF6基因发生突变，家族内表现出广泛的变异性。
Am J Med Genet A. 2016 Sep;170(9):2404-7. doi: 10.1002/ajmg.a.37791. Epub 2016 Jun 10.
5
Popliteal pterygium syndrome and surgical approach in a preterm neonate.一名早产儿的腘窝翼状胬肉综合征及手术方法
Congenit Anom (Kyoto). 2020 Nov;60(6):203-204. doi: 10.1111/cga.12387. Epub 2020 Aug 17.
6
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.扩大腘窝翼状胬肉疾病的遗传和表型谱。
Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896.
7
Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome.与腘窝翼状胬肉综合征相关的有症状的内侧副半月板
J Pediatr Orthop. 2015 Oct-Nov;35(7):e76-9. doi: 10.1097/BPO.0000000000000522.
8
Van der Woude and Popliteal Pterygium Syndromes.范德伍德综合征和腘窝翼状胬肉综合征。
J Craniofac Surg. 2018 Sep;29(6):1434-1436. doi: 10.1097/SCS.0000000000004698.
9
Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate.与非综合征性唇腭裂相比，范德伍德/腘窝翼状胬肉综合征的解剖严重程度、面中部生长及语音结果
Cleft Palate Craniofac J. 2015 Nov;52(6):676-81. doi: 10.1597/14-132. Epub 2014 Sep 11.
10
Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.波兰口面部裂隙患者已知多态性背景下IRF6基因的新型突变
Cleft Palate Craniofac J. 2015 Sep;52(5):e161-7. doi: 10.1597/14-030. Epub 2014 Dec 9.
引用本文的文献
1
Submucosal dissection to close wide cleft palate with folded mucoperiosteum for bilateral cleft lip and palate with popliteal pterygium syndrome.采用折叠粘骨膜下黏膜剥离术关闭伴有腘窝翼状胬肉综合征的双侧唇腭裂的宽腭裂。
J Surg Case Rep. 2023 Oct 21;2023(10):rjad575. doi: 10.1093/jscr/rjad575. eCollection 2023 Oct.
2
Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report.复杂先天性腘窝翼状胬肉综合征的骨科手术治疗：一例报告
Orthop Res Rev. 2023 Mar 24;15:47-57. doi: 10.2147/ORR.S392024. eCollection 2023.
3
Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature.采用连续夹板固定术手术矫正腘窝翼状胬肉：病例报告及文献综述
Plast Reconstr Surg Glob Open. 2021 Nov 29;9(11):e3913. doi: 10.1097/GOX.0000000000003913. eCollection 2021 Nov.
4
Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome.腘窝翼状胬肉综合征的产前超声和分子遗传学诊断
Diagnostics (Basel). 2021 Oct 1;11(10):1819. doi: 10.3390/diagnostics11101819.
5
Congenital Maxillomandibular Syngnathia: Review of Literature and Proposed New Classification System.先天性上颌下颌融合：文献综述及新分类系统建议
J Maxillofac Oral Surg. 2021 Mar;20(1):19-36. doi: 10.1007/s12663-019-01308-8. Epub 2019 Nov 20.
本文引用的文献
1
Cell-autonomous and non-cell-autonomous roles for IRF6 during development of the tongue.IRF6 在舌发育过程中的细胞自主和非细胞自主作用。
PLoS One. 2013;8(2):e56270. doi: 10.1371/journal.pone.0056270. Epub 2013 Feb 22.
2
The IRF family transcription factors in immunity and oncogenesis.免疫与肿瘤发生中的IRF家族转录因子。
Annu Rev Immunol. 2008;26:535-84. doi: 10.1146/annurev.immunol.26.021607.090400.
3
Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations.
Int J Pediatr Otorhinolaryngol. 2007 Oct;71(10):1613-6. doi: 10.1016/j.ijporl.2007.05.024. Epub 2007 Jul 25.
4
A case of familial popliteal pterygium syndrome: early surgical intervention for successful treatment.一例家族性腘窝翼状胬肉综合征：早期手术干预成功治疗
Pediatr Surg Int. 2003 Oct;19(8):612-4. doi: 10.1007/s00383-003-1062-x. Epub 2003 Sep 5.
5
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.IRF6基因的突变会导致范德伍德综合征和腘窝翼状胬肉综合征。
Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3.
6
Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome.
Prenat Diagn. 2000 Jun;20(6):501-4. doi: 10.1002/1097-0223(200006)20:6<501::aid-pd862>3.0.co;2-x.
7
8
Congenital syngnathia or fusion of the gums and jaws.先天性牙龈与颌骨融合或先天性颌龈粘连
Otolaryngol Head Neck Surg. 1985 Feb;93(1):96-9. doi: 10.1177/019459988509300119.
9
Popliteal pterygium syndrome.腘窝翼状胬肉综合征
Oral Surg Oral Med Oral Pathol. 1987 Jan;63(1):17-20. doi: 10.1016/0030-4220(87)90333-1.
10
Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management.皮埃尔·罗宾序列征的预后改善：多学科评估与管理的效果
Pediatrics. 1990 Aug;86(2):294-301.
Zotero 插件