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变形综合征从父亲传给儿子？

Transmission of Proteus syndrome from father to son?

作者信息

Goodship J, Redfearn A, Milligan D, Gardner-Medwin D, Burn J

机构信息

Division of Human Genetics, Newcastle upon Tyne.

出版信息

J Med Genet. 1991 Nov;28(11):781-5. doi: 10.1136/jmg.28.11.781.

DOI:10.1136/jmg.28.11.781
PMID:1770536
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017115/
Abstract

We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father to son.

摘要

我们报告了一名患有颅骨半侧肥大、淋巴管瘤、脂肪瘤和表皮痣的男婴。诊断为变形综合征。他的父亲小时候曾接受过从右侧面部切除的大型淋巴管瘤手术。我们认为变形综合征是由父亲传给儿子的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/24edbb973636/jmedgene00037-0058-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/5eb0570320be/jmedgene00037-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/ad9a07accbd9/jmedgene00037-0056-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/d2bd29ef1e23/jmedgene00037-0056-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/db8a6b39a186/jmedgene00037-0056-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/8a462ef955ea/jmedgene00037-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/f358dbc36371/jmedgene00037-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/474c16f7831a/jmedgene00037-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/aa331d48d45e/jmedgene00037-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/24edbb973636/jmedgene00037-0058-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/5eb0570320be/jmedgene00037-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/ad9a07accbd9/jmedgene00037-0056-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/d2bd29ef1e23/jmedgene00037-0056-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/db8a6b39a186/jmedgene00037-0056-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/8a462ef955ea/jmedgene00037-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/f358dbc36371/jmedgene00037-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/474c16f7831a/jmedgene00037-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/aa331d48d45e/jmedgene00037-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db9/1017115/24edbb973636/jmedgene00037-0058-c.jpg

相似文献

1
Transmission of Proteus syndrome from father to son?变形综合征从父亲传给儿子？
J Med Genet. 1991 Nov;28(11):781-5. doi: 10.1136/jmg.28.11.781.
2
Regional Proteus syndrome and somatic mosaicism.局部变形综合征与体细胞镶嵌现象。
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3
Proteus syndrome in 7 patients: clinical and genetic considerations.
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Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome?半侧面部增生伴脑膜受累：变形综合征的一种变异型？
Am J Med Genet. 1995 Nov 6;59(2):164-7. doi: 10.1002/ajmg.1320590210.
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Proteus syndrome: an update.变形综合征：最新进展
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High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.表皮痣皮肤刮片中AKT1基因c.49G>A突变的高水平体细胞镶嵌现象可实现变形综合征患者的非侵入性分子诊断。
Am J Med Genet A. 2013 Apr;161A(4):889-91. doi: 10.1002/ajmg.a.35764. Epub 2013 Feb 22.
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"Craniofacial and dental manifestations of a case of Proteus syndrome".
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Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.进行性额骨内脂肪瘤：镶嵌型AKT1变异体的检测揭示了Proteus综合征。
Clin Genet. 2022 Sep;102(3):239-241. doi: 10.1111/cge.14174. Epub 2022 Jun 17.
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Proteus syndrome: diagnosis in adulthood.变形综合征：成人期诊断
Br J Dermatol. 1998 Jul;139(1):132-6. doi: 10.1046/j.1365-2133.1998.02330.x.
10
[CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome].CLOVES综合征：一种与变形综合征极为相似的畸形综合征
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引用本文的文献

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Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.多毛斑作为变形综合征的一种镶嵌表现。
J Am Acad Dermatol. 2021 Feb;84(2):415-424. doi: 10.1016/j.jaad.2020.01.078. Epub 2020 Feb 7.
2
A review of vascular anomalies: genetics and common syndromes.血管异常综述：遗传学和常见综合征。
Semin Plast Surg. 2014 May;28(2):64-8. doi: 10.1055/s-0034-1376261.
3
Non-operative management of a splenic laceration in a patient with the Proteus syndrome.变形综合征患者脾破裂的非手术治疗

本文引用的文献

1
The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.变形综合征。手部和/或足部部分巨人症、痣、半身肥大、皮下肿瘤、巨头畸形或其他颅骨异常，以及可能的生长加速和内脏病变。
Eur J Pediatr. 1983 Mar;140(1):5-12. doi: 10.1007/BF00661895.
2
Klippel-Trénaunay-Weber syndrome.克-特-韦综合征
Birth Defects Orig Artic Ser. 1971 Jun;7(8):315-8.
3
Encephalocraniocutaneous lipomatosis and Proteus syndrome.脑颜面皮肤脂肪瘤病和变形综合征。
J Accid Emerg Med. 1997 Mar;14(2):111-3. doi: 10.1136/emj.14.2.111.
4
Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome.一名患有变形综合征的儿科患者的胸椎淋巴管脂肪瘤。
Childs Nerv Syst. 1996 Apr;12(4):224-7. doi: 10.1007/BF00301256.
Am J Med Genet. 1986 Oct;25(2):403-4. doi: 10.1002/ajmg.1320250229.
4
Proteus syndrome: an expanded phenotype.变形综合征：一种扩展的表型。
Am J Med Genet. 1987 May;27(1):99-117. doi: 10.1002/ajmg.1320270111.
5
Report of a case resembling the Proteus syndrome with a chromosome abnormality.一例伴有染色体异常的类似变形综合征病例报告。
Am J Med Genet. 1988 Dec;31(4):987-9. doi: 10.1002/ajmg.1320310434.
6
Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.
Neurofibromatosis. 1988;1(5-6):260-80.
7
Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.通过镶嵌现象存活的致死基因：对涉及皮肤的散发性出生缺陷的一种可能解释。
J Am Acad Dermatol. 1987 Apr;16(4):899-906. doi: 10.1016/s0190-9622(87)80249-9.
8
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.一个核心家庭中出现的成骨不全症的可变表达，是由一位家长的I型胶原蛋白α1（I）基因（COL1A1）中的致死性点突变的体细胞镶嵌现象所解释的。
Am J Hum Genet. 1990 Jun;46(6):1034-40.