Lécolier B, Bercau G, Gonzalès M, Afriat R, Rambaud D, Mulliez N, de Kermadec S
Laboratoire de Biologie Foetale, Hôpital Notre-Dame de Bon-Secours, Paris, France.
Prenat Diagn. 1992 Aug;12(8):637-41. doi: 10.1002/pd.1970120803.
An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X-rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X-ray and pathological study.
本文报告了一例产前卡菲病的早期病例。孕20周时进行的超声检查显示长骨有明显成角，但超声扫描和X线检查均未能对卡菲病和致死性成骨不全进行鉴别诊断。脐带穿刺使我们发现了重要的生物学异常。胎儿水肿迅速发展后终止妊娠。通过特殊的X线和病理研究确诊为卡菲病。
