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Thanatophoric dwarfism. Two case reports and survey of the literature.

作者信息

Nissenbaum M, Chung S M, Rosenberg H K, Buck B E

出版信息

Clin Pediatr (Phila). 1977 Aug;16(8):690-7. doi: 10.1177/000992287701600803.

DOI:10.1177/000992287701600803
PMID:872478
Abstract

Thanatophoric dwarfism is a severe form of short-limbed dwarfism in which cardiorespiratory failure uniformly results in death in the neonatal period. Its radiographic features include markedly flattened vertebral bodies with a typical U-shaped deformity, a flat squat pelvis, and short, bowed extremities with flaring and irregularity of the metaphyses. These characteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarism--achondroplasia and achondrogenesis. The distinctions are discussed in the text.

摘要

相似文献

1
Thanatophoric dwarfism. Two case reports and survey of the literature.
Clin Pediatr (Phila). 1977 Aug;16(8):690-7. doi: 10.1177/000992287701600803.
2
[Homozygous form of achondroplasia and thanatophoric dwarfism--bone dysplasias to be diagnosed before birth].[软骨发育不全和致死性侏儒症的纯合子形式——产前需诊断的骨发育异常]
Geburtshilfe Frauenheilkd. 1972 Mar;32(3):184-91.
3
[Thanatophoric Dwarfism (author's transl)].致死性侏儒症(作者译)
Padiatr Padol. 1978;13(3):271-83.
4
Thanatophoric dwarfism.致死性侏儒症
Helv Paediatr Acta. 1968 Apr;23(2):175-83.
5
Thanatophoric dwarfism.致死性侏儒症
Am J Dis Child. 1970 Jul;120(1):53-7. doi: 10.1001/archpedi.1970.02100060087013.
6
Lethal short-limbed chondrodysplasia in early infancy.婴儿早期的致死性短肢软骨发育不良。
Perspect Pediatr Pathol. 1976;3:1-40.
7
Thanatophoric dwarfism.致死性侏儒症
J Med Genet. 1973 Sep;10(3):243-52. doi: 10.1136/jmg.10.3.243.
8
[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.
9
Thanatophoric dwarfism: a report of two infants.致死性侏儒症:两例婴儿报告。
East Afr Med J. 1983 Oct;60(10):713-7.
10
[Fibrochondrogenesis].
Arch Fr Pediatr. 1978 Dec;35(10):1096-104.

引用本文的文献

1
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.
2
Hypochondrogenesis; an additional case.软骨发育不全;另一病例
Eur J Pediatr. 1983 Jun-Jul;140(3):278-81. doi: 10.1007/BF00443377.