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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.

作者信息

Majewski F, Stoeckenius M, Kemperdick H

出版信息

Am J Med Genet. 1982 May;12(1):37-42. doi: 10.1002/ajmg.1320120105.

DOI:10.1002/ajmg.1320120105
PMID:7201239
Abstract
摘要

相似文献

1
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.
2
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.
3
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.
Am J Med Genet. 1982 May;12(1):7-21. doi: 10.1002/ajmg.1320120103.
4
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.
Am J Med Genet. 1985 Jul;21(3):569-74. doi: 10.1002/ajmg.1320210318.
5
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
Pediatr Neurol. 2008 Jun;38(6):435-8. doi: 10.1016/j.pediatrneurol.2008.02.011.
6
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.小头骨发育异常原发性侏儒症中的小脑回畸形：一例报告及文献复习
Neuropediatrics. 2002 Dec;33(6):309-13. doi: 10.1055/s-2002-37086.
7
Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome.
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[Differential diagnostic considerations in microcephalic dwarfism].[小头畸形侏儒症的鉴别诊断考量]
Z Orthop Ihre Grenzgeb. 2000 Mar-Apr;138(2):126-30. doi: 10.1055/s-2000-10126.
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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.扩大 I 型小头骨-发育不良性原基侏儒症的表型和突变谱。
Am J Med Genet A. 2012 Jun;158A(6):1455-61. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11.
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Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings.两兄弟患小牙畸形伴严重小头畸形和身材矮小：伴有牙齿表现的骨发育异常原发性侏儒症
Am J Med Genet. 1995 Aug 28;58(2):136-42. doi: 10.1002/ajmg.1320580209.

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