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肢端中胚层发育异常

Acromesomelic dysplasia.

作者信息

Langer L O, Garrett R T

出版信息

Radiology. 1980 Nov;137(2):349-55. doi: 10.1148/radiology.137.2.7433666.

DOI:10.1148/radiology.137.2.7433666
PMID:7433666
Abstract

The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. Since the condition has an autosomal recessive mode of genetic transmission and results in extremely short stature, the establishment of the diagnosis has practical importance.

摘要

本文介绍了肢端中胚层发育不良的影像学特征,并总结了相关的临床特征。这些特征被认为有助于对6个月以上的患病个体进行诊断。由于该病具有常染色体隐性遗传模式,并导致身材极度矮小,因此确诊具有实际意义。

相似文献

1
Acromesomelic dysplasia.肢端中胚层发育异常
Radiology. 1980 Nov;137(2):349-55. doi: 10.1148/radiology.137.2.7433666.
2
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia.一种类似于软骨发育不全的常染色体隐性骨发育不良综合征。
Pediatrics. 1985 Apr;75(4):786-9.
3
[Roentgen diagnosis of the growing skeleton].[生长中骨骼的X线诊断]
Fortschr Geb Rontgenstrahlen Nuklearmed Erganzungsbd. 1969;78:11-40.
4
[Generalized bone dysplasia].
Radiologe. 1971 Aug;11(8):285-8.
5
The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.
Helv Paediatr Acta. 1983 Aug;38(3):267-80.
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Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.越南患者的马罗托克斯型肢-体比例发育不良。
Am J Med Genet A. 2019 Aug;179(8):1420-1422. doi: 10.1002/ajmg.a.61192. Epub 2019 May 11.
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[Fundamentals of clinical and roentgenologic skeletal diagnosis in childhood].
Fortschr Geb Rontgenstrahlen Nuklearmed Erganzungsbd. 1969;78:5-11.
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Frontometaphyseal dysplasia.额骨干骺端发育不良
Radiol Clin North Am. 1972 Aug;10(2):225-43.
9
Diastrophic dysplasia: the death of a variant.脊柱发育不良:一种变异型的消亡。
Radiology. 1981 Jul;140(1):79-86. doi: 10.1148/radiology.140.1.6787663.
10
The radiologic assessment of short stature--dwarfism.
Radiol Clin North Am. 1972 Aug;10(2):393-414.

引用本文的文献

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Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.骨骼发育异常中的手部X线片:图文综述
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2
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.揭示NPR2错义变体的致病机制:对肢端中胚层发育不良和身材矮小的基因型相关严重程度的见解。
Front Cell Dev Biol. 2023 Nov 23;11:1294748. doi: 10.3389/fcell.2023.1294748. eCollection 2023.
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A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B () variants.
1例轻度马罗托型肢端中胚层发育不良伴新型利钠肽受体B()变异体
Radiol Case Rep. 2021 Jun 14;16(8):2240-2243. doi: 10.1016/j.radcr.2021.05.011. eCollection 2021 Aug.
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A novel mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.一名患有马罗托型肢端中胚层发育不良患者的一种新型突变(p.Arg388Gln)
Clin Pediatr Endocrinol. 2020;29(3):99-103. doi: 10.1297/cpe.29.99. Epub 2020 Jul 11.
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TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.TGF-β 家族信号在结缔组织和骨骼疾病中的作用。
Cold Spring Harb Perspect Biol. 2017 Nov 1;9(11):a022269. doi: 10.1101/cshperspect.a022269.
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Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.在四个患有马罗托型肢端中胚层发育不良的印度家庭中,跨膜利钠肽受体NPR - B基因的新型突变。
J Genet. 2016 Dec;95(4):905-909. doi: 10.1007/s12041-016-0715-1.
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Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.朝鲜后期(韩国)人群中与侏儒症相关的骨骼发育异常的古病理学研究。
PLoS One. 2015 Oct 21;10(10):e0140901. doi: 10.1371/journal.pone.0140901. eCollection 2015.
8
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).cn/cn 侏儒小鼠。对应于人类马罗泰克斯型肢端中胚层发育不良(AMDM)的突变体的组织形态计量学、超微结构和放射学研究。
BMC Musculoskelet Disord. 2014 Oct 15;15:347. doi: 10.1186/1471-2474-15-347.
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Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia.一名患有肢中发育异常并伴有脑积水、阿诺德-奇阿利畸形和脊髓空洞症患者的麻醉。
J Anaesthesiol Clin Pharmacol. 2013 Oct;29(4):555-7. doi: 10.4103/0970-9185.119153.
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Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.新型利钠肽受体 2 基因突变导致马罗泰克斯型肢-体短小型骨发育不良
BMC Med Genet. 2012 Jun 12;13:44. doi: 10.1186/1471-2350-13-44.