Chen H, Chang C H, Perrin E, Perrin J
Am J Med Genet. 1982 Oct;13(2):149-61. doi: 10.1002/ajmg.1320130207.
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.
我们在此描述两例孤立的致死性、类拉森氏多关节脱位综合征病例。患儿出生后不久因气管软化和/或肺发育不全导致肺功能不全而死亡。两例患儿均有异常的真皮胶原束。在一例中，组织化学研究显示软骨基质异常，关节囊致密胶原束明显缺乏；气管透明软骨的电子显微镜研究表明，短而小的纤维相对增加，基质胶原纤维减少。本研究证实，这种类拉森氏综合征是一种结缔组织疾病，可能涉及胶原纤维发育不成熟，以关节囊和气管软骨受累为主。这种致死性疾病的特征是肺功能不全、气管软化和胶原纤维发育不成熟。
