致死性侏儒症。一种在新生儿中易与软骨发育不全相混淆的病症，并对软骨发育不全和纯合子软骨发育不全作简要评论。 - Suppr

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Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.

作者信息

Langer L O, Spranger J W, Greinacher I, Herdman R C

出版信息

Radiology. 1969 Feb;92(2):285-94 passim. doi: 10.1148/92.2.285.

DOI:10.1148/92.2.285

PMID:4885523

Abstract

摘要

相似文献

Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.致死性侏儒症。一种在新生儿中易与软骨发育不全相混淆的病症，并对软骨发育不全和纯合子软骨发育不全作简要评论。

Radiology. 1969 Feb;92(2):285-94 passim. doi: 10.1148/92.2.285.

Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.致死性短肢侏儒症：软骨发育不全和致死性侏儒症。

Am J Roentgenol Radium Ther Nucl Med. 1971 May;112(1):185-97. doi: 10.2214/ajr.112.1.185.

Neonatal death dwarfism. (A further report).新生儿死亡性侏儒症。（进一步报告）

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Pseudo-achondrogenesis with fractures.伴有骨折的假性软骨发育不全

Clin Genet. 1972;3(6):435-41. doi: 10.1111/j.1399-0004.1972.tb01477.x.

Achondrogenesis, type I.Ⅰ型软骨发育不全

Rofo. 1977 Oct;127(4):341-4. doi: 10.1055/s-0029-1230713.

[Achondrogenesis and thanatophoric nanism. Clinical, radiological and genetic aspects].[软骨发育不全和致死性侏儒症。临床、放射学和遗传学方面]

Minerva Pediatr. 1976 Sep 22;28(29):1785-94.

Achondroplasia and thanatophoric dwarfism in the newborn.新生儿的软骨发育不全和致死性侏儒症。

Clin Genet. 1971;2(2):61-72. doi: 10.1111/j.1399-0004.1971.tb00257.x.

[Diastrophic dwarfism. Case report on a newborn infant].[脊柱骨骺发育不良性侏儒症。一名新生儿的病例报告]

Radiologe. 1975 Feb;15(2):50-2.

Thanatophoric dwarfism: roentgen diagnosis in utero.致死性侏儒症：宫内X线诊断

Australas Radiol. 1972 Jun;16(2):155-8. doi: 10.1111/j.1440-1673.1972.tb01346.x.

Achondroplasia.软骨发育不全

Am J Roentgenol Radium Ther Nucl Med. 1967 May;100(1):12-26. doi: 10.2214/ajr.100.1.12.

引用本文的文献

A Novel Splicing Variant of in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.一种新型 II 型软骨发育不全症胎儿中的剪接变体：框内缺失致病性的解读。

Genes (Basel). 2021 Sep 10;12(9):1395. doi: 10.3390/genes12091395.

Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review.

J Huazhong Univ Sci Technolog Med Sci. 2017 Feb;37(1):148-152. doi: 10.1007/s11596-017-1708-x. Epub 2017 Feb 22.

The type II collagenopathies: a spectrum of chondrodysplasias.II型胶原病：软骨发育不全的一种谱系。

Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208.

Normal lipid composition of fibroblasts from a case of type II achondrogenesis.II型软骨发育不全病例中，成纤维细胞的正常脂质组成。

Eur J Pediatr. 1980 Aug;134(2):159-60. doi: 10.1007/BF01846038.

An unusual case of short limbed dwarfism and thoracic dystrophy with normal spine, hands and feet.

Pediatr Radiol. 1980 Feb;9(2):105-8. doi: 10.1007/BF00977673.

Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature.致死性骨发育不全合并三叶形颅骨。病例报告及文献复习。

Eur J Pediatr. 1982 Dec;139(4):298-303. doi: 10.1007/BF00442186.

Torrance type of lethal neonatal short-limbed platyspondylic dwarfism.托伦斯型致死性新生儿短肢扁平椎侏儒症。

Skeletal Radiol. 1983;10(1):17-9. doi: 10.1007/BF00355385.

Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.先天性脊椎骨骺发育不良。致死性新生儿侏儒症的一个病因。

Pediatr Radiol. 1980 Jul;9(4):217-24. doi: 10.1007/BF01092948.

Achondrogenesis type I: light and electron-microscopic studies.Ⅰ型软骨发育不全：光镜和电镜研究

Eur J Pediatr. 1980 Jun;134(1):69-74. doi: 10.1007/BF00442406.

Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.三叶草颅骨和致死性侏儒症。4例报告，其中2例为同胞关系。

Arch Dis Child. 1971 Oct;46(249):656-64. doi: 10.1136/adc.46.249.656.

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