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乔汉森-布莱兹德综合征中的颞骨。一项CT研究。

The temporal bone in the Johanson-Blizzard syndrome. A CT study.

作者信息

Braun J, Lerner A, Gershoni-Baruch R

机构信息

Department of Diagnostic Radiology, Rambam Medical Center, Haifa, Israel.

出版信息

Pediatr Radiol. 1991;21(8):580-3. doi: 10.1007/BF02012603.

DOI:10.1007/BF02012603
PMID:1815181
Abstract

The findings of thin-section high-resolution CT of the temporal bone in two children with Johanson-Blizzard syndrome are reported. In both cases an anomaly of the inner ear was found, consisting of bilateral cystic dilatation of the cochlea and the vestibulum. The possible etiologic basis for the hearing loss in this syndrome is discussed and the literature is reviewed.

摘要

报告了两名患有约翰森-布利兹综合征儿童的颞骨薄层高分辨率CT检查结果。在这两个病例中均发现内耳异常，表现为双侧耳蜗和前庭的囊性扩张。讨论了该综合征听力损失可能的病因基础并回顾了相关文献。

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The temporal bone in the Johanson-Blizzard syndrome. A CT study.乔汉森-布莱兹德综合征中的颞骨。一项CT研究。
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引用本文的文献

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Variable Expressivity in Johanson-Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature.约汉森-布莱兹综合征的可变表达：一例严重表现病例及文献综述
JGH Open. 2025 Jul 27;9(8):e70236. doi: 10.1002/jgh3.70236. eCollection 2025 Aug.
2
Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.伴有耳蜗囊性扩张和蜗轴发育不全的约翰森-布莱兹德综合征：一例报告
Pediatr Radiol. 2025 Jan;55(1):195-200. doi: 10.1007/s00247-024-06118-w. Epub 2024 Dec 7.
3
Johanson-Blizzard syndrome.

本文引用的文献

1
Hypoplasia of the exocrine tissue of the pancreas.胰腺外分泌组织发育不全。
J Pathol Bacteriol. 1952 Oct;64(4):679-86. doi: 10.1002/path.1700640402.
2
[Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)].[约翰森-布里扎德综合征：胰腺脂肪过多症的另一个病因（作者译）]
Arch Fr Pediatr. 1980 Jan;37(1):21-4.
3
Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome.约翰森-布莱兹德综合征颅面部生长的X线头影测量分析
乔汉森-布莱兹德综合征
Braz J Otorhinolaryngol. 2010 Nov-Dec;76(6):794. doi: 10.1590/s1808-86942010000600020.
4
Eponym: Johanson-Blizzard syndrome.译名：约瀚逊-布莱克韦尔综合征。
Eur J Pediatr. 2011 Feb;170(2):179-83. doi: 10.1007/s00431-010-1240-5. Epub 2010 Jun 17.
J Craniofac Genet Dev Biol. 1981;1(1):57-72.
4
A syndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings.两例同胞患先天性鼻翼发育不全、内脏反位和严重低蛋白血症综合征。
J Pediatr. 1981 Dec;99(6):932-4. doi: 10.1016/s0022-3476(81)80026-1.
5
The Johanson-Blizzard syndrome.约汉森-布里扎德综合征
J Med Genet. 1982 Aug;19(4):302-3. doi: 10.1136/jmg.19.4.302.
6
Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly.
Am J Med. 1966 Sep;41(3):478-85. doi: 10.1016/0002-9343(66)90094-5.
7
Proteolytic and lipolytic deficiency of the exocrine pancreas.外分泌胰腺的蛋白水解和脂肪水解缺乏症。
J Pediatr. 1969 Aug;75(2):221-8. doi: 10.1016/s0022-3476(69)80392-6.
8
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.一种包括先天性鼻翼发育不全、耳聋、甲状腺功能减退、侏儒症、恒牙缺失和吸收不良的综合征。
J Pediatr. 1971 Dec;79(6):982-7. doi: 10.1016/s0022-3476(71)80194-4.
9
Trypsinogen deficiency disease.胰蛋白酶原缺乏症
Am J Dis Child. 1967 Aug;114(2):203-8. doi: 10.1001/archpedi.1967.02090230133019.
10
Johanson-Blizzard syndrome with normal intelligence.智力正常的乔汉森-布莱兹德综合征
Am J Med Genet. 1985 Sep;22(1):69-73. doi: 10.1002/ajmg.1320220107.