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II型小头畸形性骨发育不良性原始侏儒症。1例具有特征性骨骼表现的病例报告。

Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features.

作者信息

Herman T E, Mendelsohn N J, Dowton S B, McAlister W H

机构信息

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Pediatr Radiol. 1991;21(8):602-4. doi: 10.1007/BF02012613.

DOI:10.1007/BF02012613
PMID:1815189
Abstract

Osteodysplastic primordial dwarfism, type II manifests typical skeletal features which have not previously been described in the radiographic literature. We present an infant with characteristic findings and discuss related conditions, especially the Seckel syndrome.

摘要

II型骨发育不全性原发性侏儒症表现出典型的骨骼特征，这些特征在既往的放射学文献中未曾有过描述。我们报告了一名具有特征性表现的婴儿，并讨论了相关病症，尤其是塞克尔综合征。

相似文献

1
Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features.II型小头畸形性骨发育不良性原始侏儒症。1例具有特征性骨骼表现的病例报告。
Pediatr Radiol. 1991;21(8):602-4. doi: 10.1007/BF02012613.
2
Microcephalic, osteodysplastic, primordial dwarfism.小头、骨发育异常、原始侏儒症。
Australas Radiol. 1993 Feb;37(1):111-4. doi: 10.1111/j.1440-1673.1993.tb00029.x.
3
Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.II型小头畸形性骨发育不良原发性侏儒症的神经学方面
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Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.小头骨发育异常原发性侏儒症泰比-林德型：4例报告及文献复习
Am J Med Genet. 1998 Oct 30;80(1):16-24.
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Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.
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Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II.
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Microcephalic osteodysplastic primordial dwarfism type II.II型小头畸形性骨发育不良原发性侏儒症
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[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].
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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.对 24 个 Seckel/小头骨-骨发育不全性矮小症 II 型 (MOPD II) 家系进行中心体蛋白基因 (PCNT) 的分子分析。
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Ocular characteristics in a variant microcephalic primordial dwarfism type II.Ⅱ型变异型小头性原始侏儒症的眼部特征。
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Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.影响脑血管和平滑肌的遗传性神经血管疾病。
Metab Brain Dis. 2015 Oct;30(5):1105-16. doi: 10.1007/s11011-015-9668-y. Epub 2015 Apr 21.
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Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

本文引用的文献

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Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.
Am J Med Genet. 1982 May;12(1):37-42. doi: 10.1002/ajmg.1320120105.
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Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.小头畸形原发性侏儒症II的研究：原发性侏儒症的骨发育不良II型
Am J Med Genet. 1982 May;12(1):23-35. doi: 10.1002/ajmg.1320120104.
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病例报告。II型小头畸形性骨发育不良性原始侏儒症：一名有异常症状和临床病程的儿童。
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[Congenital dwarfisms with dysmorphism. 1. Congenital dwarfism with craniofacial dysmorphism and body asymmetry (Silver-Russel type)].[伴有畸形的先天性侏儒症。1. 伴有颅面部畸形和身体不对称的先天性侏儒症（Silver-Russel型）]
Pediatrie. 1974 Apr-May;29(3):249-59.
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Seckel's bird-headed dwarfism.
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Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.
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Microcephalic osteodysplastic dwarfism (type II-like) in siblings.同胞中的小头骨发育异常性侏儒症（II型样）
Clin Genet. 1987 Aug;32(2):88-94. doi: 10.1111/j.1399-0004.1987.tb03331.x.
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A new case of the osteodysplastic primordial dwarfism type II.一例新的II型骨发育不良性原始侏儒症病例。
Am J Med Genet. 1987 Apr;26(4):819-24. doi: 10.1002/ajmg.1320260408.
10
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.I型原发性骨发育不良性侏儒症伴角膜混浊：常染色体隐性遗传的证据。
Clin Genet. 1990 Nov;38(5):359-61. doi: 10.1111/j.1399-0004.1990.tb03595.x.