Chatterjee Sitangshu, Roy Praytay, Das Ira, Sinha M K
Department of Paediatrics, Medical College Hospital, Kolkata, West Bengal, India.
J Clin Neonatol. 2013 Apr;2(2):108-9. doi: 10.4103/2249-4847.116415.
Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function. We describe a case of RCDP in a 12 days old newborn based on the clinical and radiological ground without any major systemic structural or functional abnormalities.
肢根型点状软骨发育不良（RCDP）是一种常染色体隐性代谢紊乱疾病，主要影响过氧化物酶体功能。我们描述了一例12日龄新生儿的RCDP病例，该病例基于临床和放射学依据诊断，且无任何重大的全身结构或功能异常。
