The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.
A lethal, Larsen-like multiple joint dislocation syndrome.
We describe here two isolated cases of lethal, Larsen-like multiple joint dislocation syndrome. Death occurred shortly after birth with pulmonary insufficiency due to tracheomalacia and/or lung hypoplasia. Both had abnormal dermal collagen bundles. In one case, histochemical studies showed abnormal cartilagenous matrix and striking deficiency in the dense collagen bundles of joint capsules; electronmicroscopic studies of the hyaline cartilage of the trachea documented a relative increase of the small, short fibers with decrease of the matrix collagen fibers. This study confirms that this Larsen-like syndrome is a disorder of connective tissue, possibly involving dysmaturity of the collagen fibers, with a predilection for joint capsules and tracheal cartilage. This lethal condition is characterized by pulmonary insufficiency, tracheomalacia, and collagen fiber dysmaturity.[1]References
- A lethal, Larsen-like multiple joint dislocation syndrome. Chen, H., Chang, C.H., Perrin, E., Perrin, J. Am. J. Med. Genet. (1982) [Pubmed]
Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Use
