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班纳扬综合征:一种常染色体显性疾病,其特征包括巨头畸形、脂肪瘤、血管瘤以及颅内肿瘤风险。

The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors.

作者信息

Higginbottom M C, Schultz P

出版信息

Pediatrics. 1982 May;69(5):632-4.

PMID:7079022
Abstract

The Bannayan syndrome is a disorder consisting of macrocephaly, alterations of linear growth, and benign mesodermal hamartomas--primarily lipomas and hemangiomas. The purpose of this report is to present a family with the Bannayan syndrome, confirming the genetic etiology of the disorder and demonstrating that affected individuals are at risk for developing intracranial neoplasms. This report brings to seven the number of cases reported in the literature.

摘要

班纳扬综合征是一种由巨头畸形、线性生长改变以及良性中胚层错构瘤(主要是脂肪瘤和血管瘤)组成的病症。本报告的目的是呈现一个患有班纳扬综合征的家族,证实该病症的遗传病因,并表明受影响个体有发生颅内肿瘤的风险。本报告使文献中报道的病例数增至七例。

相似文献

1
The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors.班纳扬综合征:一种常染色体显性疾病,其特征包括巨头畸形、脂肪瘤、血管瘤以及颅内肿瘤风险。
Pediatrics. 1982 May;69(5):632-4.
2
Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
Am J Med Genet. 1984 Oct;19(2):225-34. doi: 10.1002/ajmg.1320190204.
3
Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?巨头畸形、多发性脂肪瘤和血管瘤(班纳扬 - 佐纳纳综合征):是遗传异质性还是具有至少两种不同等位基因形式的常染色体显性基因座?
Am J Med Genet. 1989 Dec;34(4):548-51. doi: 10.1002/ajmg.1320340419.
4
[Bannayan syndrome with intracranial arteriovenous malformations].伴有颅内动静脉畸形的班纳扬综合征
An Esp Pediatr. 1986 Dec;25(6):462-6.
5
Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature.班纳扬-佐纳纳综合征:一种罕见的常染色体显性综合征,伴有多发性脂肪瘤和血管瘤:一例报告及文献复习
Surg Neurol. 1998 Aug;50(2):164-8. doi: 10.1016/s0090-3019(98)00039-1.
6
Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas.伴有脂肪瘤、血管瘤和淋巴管瘤的班纳扬-佐纳纳综合征。
J Pediatr Surg. 1992 Jun;27(6):722-3. doi: 10.1016/s0022-3468(05)80100-9.
7
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia.鼻睑脂肪瘤-缺损综合征:一种新的常染色体显性发育异常-畸形综合征,伴有先天性鼻睑脂肪瘤、眼睑缺损、内眦距增宽和上颌骨发育不全。
Am J Med Genet. 1982 Apr;11(4):397-410. doi: 10.1002/ajmg.1320110404.
8
Macrocephaly with multiple lipomas and hemangiomas.
J Pediatr. 1976 Oct;89(4):600-3. doi: 10.1016/s0022-3476(76)80397-6.
9
Slowly progressive macrocephaly with hamartomas: a new syndrome?伴有错构瘤的缓慢进行性巨头症:一种新综合征?
Am J Med Genet. 1989 Jun;33(2):182-5. doi: 10.1002/ajmg.1320330209.
10
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.
Arch Dermatol. 1996 Oct;132(10):1214-8.

引用本文的文献

1
Cowden Syndrome.考登综合征
J Genet Couns. 1997 Jun;6(2):181-92. doi: 10.1023/A:1025664119494.
2
Cognitive characteristics of PTEN hamartoma tumor syndromes.PTEN 错构瘤肿瘤综合征的认知特征。
Genet Med. 2013 Jul;15(7):548-53. doi: 10.1038/gim.2013.1. Epub 2013 Mar 7.
3
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.软组织 PTEN 错构瘤:PTEN 综合征中的一种特征性病变。
Am J Surg Pathol. 2012 May;36(5):671-87. doi: 10.1097/PAS.0b013e31824dd86c.
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Hamartomatous polyposis syndromes.错构瘤性息肉病综合征
Surg Clin North Am. 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002.
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Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management.遗传性结直肠癌综合征:分子遗传学、遗传咨询、诊断与管理
Fam Cancer. 2008;7(1):27-39. doi: 10.1007/s10689-007-9165-5. Epub 2007 Nov 13.
6
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.一个与PTEN单一胚系突变相关的家族中Cowden综合征和Bannayan-Zonana综合征的表型发现。
J Med Genet. 1999 May;36(5):360-4.
7
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.
8
Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis.
Eur J Pediatr. 1985 Mar;143(4):320-3. doi: 10.1007/BF00442313.
9
Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.
Eur J Pediatr. 1988 Nov;148(2):122-5. doi: 10.1007/BF00445918.
10
Translocation 19;Y in a child with Bannayan-Zonana phenotype.一名患有班纳扬-佐纳纳综合征表型儿童的19号染色体与Y染色体易位。
J Med Genet. 1991 Jun;28(6):427-8. doi: 10.1136/jmg.28.6.427.