Storm W, Fasse M
Kinderklinik St.-Vincenz-Krankenhaus, Paderborn.
Monatsschr Kinderheilkd. 1991 Sep;139(9):629-31.
Laryngeal atresia had to be unexpectedly detected and treated in a newborn baby. The outer appearance with symmetric shortening of humeri and femora and radiological features with epiphysial and extraepiphysial calcifications led to the diagnosis of rhizomelic chondrodysplasia punctata. This disease is described as a peroxisomal disorder with a poor prognosis on the basis of pathophysiological and diagnostic features.
一名新生儿意外地被检测出患有喉闭锁并接受了治疗。患儿外观显示肱骨和股骨对称缩短，影像学特征表现为骨骺和骨骺外钙化，据此诊断为点状骨骺发育不良。根据病理生理和诊断特征，这种疾病被描述为一种预后不良的过氧化物酶体疾病。
