Suppr超能文献

Campomelic dwarfism.

作者信息

Becker M H, Finegold M, Genieser N B, Darling D, Feingold M

出版信息

Birth Defects Orig Artic Ser. 1975;11(6):113-8.

PMID:1103991
Abstract

The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.

摘要

相似文献

1
Campomelic dwarfism.
Birth Defects Orig Artic Ser. 1975;11(6):113-8.
2
A case of acampomelic campomelic dysplasia.
Genet Couns. 2002;13(1):23-8.
4
The Campomelic syndrome. Temporal bone histopathologic features and otolaryngologic manifestations.
Arch Otolaryngol. 1979 Aug;105(8):449-54. doi: 10.1001/archotol.1979.00790200011003.
6
Vascular anomalies in campomelic syndrome.
Am J Med Genet. 1993 Apr 15;46(2):185-92. doi: 10.1002/ajmg.1320460218.
7
Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.
Radiology. 1976 Sep;120(3):641-7. doi: 10.1148/120.3.641.
8
Orthopaedic manifestations of campomelic dysplasia.
Clin Orthop Relat Res. 2002 Aug(401):65-74. doi: 10.1097/00003086-200208000-00010.
9
An unusual bone dysplasia: parastremmatic dwarfism.
Am J Roentgenol Radium Ther Nucl Med. 1970 Nov;110(3):550-60. doi: 10.2214/ajr.110.3.550.
10
Diastrophic dwarfism.
J Bone Joint Surg Am. 1968 Jan;50(1):113-22. doi: 10.2106/00004623-196850010-00007.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验