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又有一名患有常染色体显性遗传的派氏综合征患者？

A further patient with Pai syndrome with autosomal dominant inheritance?

作者信息

Rudnik-Schöneborn S, Zerres K

机构信息

Institute for Human Genetics, University of Bonn, Germany.

出版信息

J Med Genet. 1994 Jun;31(6):497-8. doi: 10.1136/jmg.31.6.497.

DOI:10.1136/jmg.31.6.497
PMID:8071979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049932/
Abstract

We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.

摘要

我们报告了一名患有上唇正中裂、面部皮肤息肉和胼胝体脂肪瘤的患者，这是另一例Pai综合征病例。患者的父亲有右眼虹膜缺损，并与儿子有一些面部畸形，因此引发了常染色体显性遗传的问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22df/1049932/d6065036ecae/jmedgene00285-0073-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22df/1049932/03f87f5b6ff8/jmedgene00285-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22df/1049932/d6065036ecae/jmedgene00285-0073-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22df/1049932/03f87f5b6ff8/jmedgene00285-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22df/1049932/d6065036ecae/jmedgene00285-0073-b.jpg

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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。

本文引用的文献

1
Median cleft of the upper lip.上唇正中裂
Plast Reconstr Surg. 1974 Feb;53(2):155-7. doi: 10.1097/00006534-197402000-00005.
2
True median cleft of the upper lip associated with three pedunculated club-shaped skin masses.真性上唇正中裂伴三个带蒂的棒状皮肤肿物。
Plast Reconstr Surg. 1985 May;75(5):727-31. doi: 10.1097/00006534-198505000-00022.
3
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.
BMC Ear Nose Throat Disord. 2017 Feb 6;17:2. doi: 10.1186/s12901-017-0035-y. eCollection 2017.
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Pai syndrome: first reported case in Qatar and review of literature of previously published cases.派综合征：卡塔尔首例报告病例及既往已发表病例的文献综述
BMJ Case Rep. 2012 Aug 21;2012:bcr0220125940. doi: 10.1136/bcr-02-2012-5940.
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Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.
Childs Nerv Syst. 2008 Jun;24(6):773-6. doi: 10.1007/s00381-008-0613-9. Epub 2008 Mar 28.
6
Ocular coloboma: a reassessment in the age of molecular neuroscience.眼裂缺损：分子神经科学时代的重新评估
J Med Genet. 2004 Dec;41(12):881-91. doi: 10.1136/jmg.2004.025494.
7
Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).上唇正中裂及带蒂皮肤肿物伴新发相互易位46,X,t(X;16)(q28;q11.2)
J Med Genet. 1997 Nov;34(11):952-4. doi: 10.1136/jmg.34.11.952.
4
Median clefting of the upper lip associated with cutaneous polyps.上唇正中裂伴皮肤息肉
J Med Genet. 1990 May;27(5):337-8. doi: 10.1136/jmg.27.5.337.
5
Midline cleft lip with associated abnormalities.正中唇裂伴相关异常。
J Laryngol Otol. 1977 Feb;91(2):177-81. doi: 10.1017/s0022215100083535.