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派伊综合征：具有挑战性的产前诊断和管理。

Pai syndrome: challenging prenatal diagnosis and management.

机构信息

Department of Radiology, Centre Hospitalier Universitaire de Caen, Caen, France.

出版信息

Pediatr Radiol. 2014 Sep;44(9):1184-7. doi: 10.1007/s00247-014-2966-4. Epub 2014 Apr 20.

DOI:10.1007/s00247-014-2966-4
PMID:24748063
Abstract

Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome.

摘要

帕伊综合征是一种罕见的疾病，包括中线唇裂、胼胝体脂肪瘤和面部皮肤息肉。我们报告了一例使用超声和 MRI 进行产前诊断的病例。我们强调了在产前诊断中线唇裂和胼胝体脂肪瘤时进行面部检查的重要性，以便做出帕伊综合征的诊断。

相似文献

1
Pai syndrome: challenging prenatal diagnosis and management.派伊综合征：具有挑战性的产前诊断和管理。
Pediatr Radiol. 2014 Sep;44(9):1184-7. doi: 10.1007/s00247-014-2966-4. Epub 2014 Apr 20.
2
Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.伴有额部脑膨出自发性宫内闭合的派氏综合征的产前和产后影像学表现
Pediatr Radiol. 2015 Jun;45(6):936-40. doi: 10.1007/s00247-014-3205-8. Epub 2014 Oct 31.
3
Prenatal detection of Pai syndrome without cleft lip and palate: a case report.产前检测无唇腭裂的派氏综合征：一例报告
Genet Couns. 2013;24(1):1-5.
4
Diagnostic criteria in Pai syndrome: results of a case series and a literature review.派氏综合征的诊断标准：病例系列研究结果与文献综述
Int J Oral Maxillofac Surg. 2019 Mar;48(3):283-290. doi: 10.1016/j.ijom.2018.08.010. Epub 2018 Sep 6.
5
[Pai syndrome: Two new cases with unusual manifestations].[派综合征：两例具有不寻常表现的新病例]
Arch Argent Pediatr. 2018 Apr 1;116(2):e336-e340. doi: 10.5546/aap.2018.e336.
6
Atypical findings in three patients with Pai syndrome and literature review.三名 Pai 综合征患者的非典型表现及文献复习。
Am J Med Genet A. 2012 Nov;158A(11):2899-904. doi: 10.1002/ajmg.a.35592. Epub 2012 Sep 17.
7
'Pai Syndrome' with anterior alveolar polyp: A variant of a rare clinical entity.伴有前牙槽息肉的“派氏综合征”：一种罕见临床病症的变体
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Ocular dermoid in Pai Syndrome: A review.派综合征中的眼皮样囊肿：综述
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9
Nasal septal lipoma in a child: Pai syndrome or not?儿童鼻中隔脂肪瘤：是否为派氏综合征？
Int J Pediatr Otorhinolaryngol. 2014 Apr;78(4):697-700. doi: 10.1016/j.ijporl.2014.01.027. Epub 2014 Jan 31.
10
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature.
Ophthalmic Genet. 2018 Apr;39(2):282-285. doi: 10.1080/13816810.2017.1381979. Epub 2017 Nov 8.

引用本文的文献

1
Pai syndrome: a review.派伊综合征：综述。
Childs Nerv Syst. 2020 Nov;36(11):2635-2640. doi: 10.1007/s00381-020-04788-z. Epub 2020 Jul 10.
2
Lipoma of Columella with septal extension in Pai syndrome: report of a rare case.派氏综合征中伴有鼻中隔延伸的小柱脂肪瘤：1例罕见病例报告。
BMC Ear Nose Throat Disord. 2017 Feb 6;17:2. doi: 10.1186/s12901-017-0035-y. eCollection 2017.
3
Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.伴有额部脑膨出自发性宫内闭合的派氏综合征的产前和产后影像学表现

本文引用的文献

1
Prenatal detection of Pai syndrome without cleft lip and palate: a case report.产前检测无唇腭裂的派氏综合征：一例报告
Genet Couns. 2013;24(1):1-5.
2
Atypical findings in three patients with Pai syndrome and literature review.三名 Pai 综合征患者的非典型表现及文献复习。
Am J Med Genet A. 2012 Nov;158A(11):2899-904. doi: 10.1002/ajmg.a.35592. Epub 2012 Sep 17.
3
Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings.与派氏综合征相关的胼胝体周围脂肪瘤：产前影像学表现
Pediatr Radiol. 2015 Jun;45(6):936-40. doi: 10.1007/s00247-014-3205-8. Epub 2014 Oct 31.
Ultrasound Obstet Gynecol. 2008 Oct;32(5):708-10. doi: 10.1002/uog.6150.
4
Pai syndrome: first patient with agenesis of the corpus callosum and literature review.
Birth Defects Res A Clin Mol Teratol. 2007 Oct;79(10):673-9. doi: 10.1002/bdra.20392.
5
Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review.派氏综合征（正中腭裂、皮肤鼻息肉和胼胝体中线脂肪瘤）：一例病例报告及文献综述
Int J Pediatr Otorhinolaryngol. 2005 Sep;69(9):1247-52. doi: 10.1016/j.ijporl.2005.01.038.
6
Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases.胼胝体脂肪瘤的产前诊断及产后随访：7例新病例报告
AJNR Am J Neuroradiol. 2001 Apr;22(4):767-72.
7
Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps.
Am J Med Genet. 1987 Apr;26(4):921-4. doi: 10.1002/ajmg.1320260421.