妊娠24周男性双胞胎的纤维软骨形成。
Fibrochondrogenesis in male twins at 24 weeks gestation.
作者信息
Bankier A, Fortune D, Duke J, Sillence D O
机构信息
Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
出版信息
Am J Med Genet. 1991 Jan;38(1):95-8. doi: 10.1002/ajmg.1320380121.
PMID:2012139
Abstract
Fibrochondrogenesis is a rare lethal chondrodysplasia. Only 5 cases have been reported. We report on a pair of affected twins diagnosed at 24 weeks of gestation. Occurrence in sibs and consanguinity in the parents in a previous report support autosomal recessive transmission.
摘要
纤维软骨发育异常是一种罕见的致死性软骨发育不良。仅报道过5例。我们报告一对在妊娠24周时被诊断出患病的双胞胎。先前一份报告中同胞发病及父母近亲结婚的情况支持常染色体隐性遗传。
Zotero 插件