Svejcar J
Clin Genet. 1983 May;23(5):369-75.
Biochemical findings in the connective tissue of two rare genetic skeletal dysplasias are reported. Osteodysplasty of Melnick-Needles showed an increased content of collagen; its increased synthesis may be the expression of the sclerosing process. In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. These point to a deficiency in alpha 1-chains which may be the cause of an increase in cross-linking with a change in cleavage and extractibility of collagen.
报告了两种罕见遗传性骨骼发育不良的结缔组织中的生化发现。梅尼克 - 尼德尔斯骨发育异常显示胶原蛋白含量增加；其合成增加可能是硬化过程的表现。在新生儿致死性节段性侏儒症中，发现了胶原蛋白肽的异常凝胶电泳图谱。这些表明α1链存在缺陷，这可能是胶原蛋白交联增加以及裂解和可提取性改变的原因。
