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.
D003095:Collagen Diseases / Q000235:genetics; D005260:Female; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D007592:Joint Diseases / Q000235:genetics*; D004204:Joint Dislocations / Q000235:genetics*; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000235:genetics; D013577:Syndrome