White Amy L, Modaff Peggy, Holland-Morris Francesca, Pauli Richard M
Department of Medical Genetics, University of Wisconsin-Madison, 53705, USA.
Am J Med Genet A. 2003 May 1;118A(4):332-42. doi: 10.1002/ajmg.a.20009.
Rhizomelic chondrodysplasia punctata (RCP) is a rare autosomal recessive disorder with many associated medical complications. Prior to this study, natural history information about RCP was limited and based on experiences with small populations of affected individuals. We delineate the natural history of RCP through systematic analysis of 35 previously unreported individuals (as well as review of 62 literature cases with respect to survival and cause of death). Survival, growth, and developmental expectations and medical needs are summarized based upon experience with this population. Survival is greater among this population than previously reported, with 90% surviving up to 1 year and 50% surviving up to 6 years. Cause of death is most often respiratory problem. All infants with RCP have joint contractures, bilateral cataracts, and severe growth and psychomotor delays. Recommendations for health supervision of children with RCP and for parental counseling are presented.
肢根型点状软骨发育不良（RCP）是一种罕见的常染色体隐性疾病，伴有许多相关的医学并发症。在本研究之前，关于RCP的自然病史信息有限，且基于少数受影响个体的经验。我们通过对35例此前未报告的个体进行系统分析（以及回顾62例文献报道病例的生存情况和死亡原因）来描述RCP的自然病史。基于对该群体的经验，总结了生存、生长、发育预期和医疗需求。该群体的生存率高于先前报道，90%存活至1岁，50%存活至6岁。死亡原因最常见的是呼吸问题。所有RCP患儿均有关节挛缩、双侧白内障以及严重的生长和精神运动发育迟缓。本文还提出了对RCP患儿进行健康监测及对家长进行咨询的建议。
