Schramm T, Nerlich A
I. Frauenklinik der Universität München.
Geburtshilfe Frauenheilkd. 1989 Oct;49(10):917-9. doi: 10.1055/s-2008-1036110.
The authors report on a prenatal ultrasonic diagnosis of lethal osteochondrodysplasia achondrogenesis type I (Parenti-Fraccaro) in the 17th week of pregnancy. The prenatal findings were confirmed by necropsy after termination of the pregnancy. The possibility to recognize lethal skeletal disorders early in pregnancy is discussed as well as the patho-anatomical criteria and possible patho-physiological mechanisms of achondrogenesis.
作者报告了一例在妊娠第17周时产前超声诊断为致死性骨软骨发育不良I型(帕伦蒂-弗拉卡罗型)的病例。妊娠终止后经尸检证实了产前检查结果。文中讨论了在妊娠早期识别致死性骨骼疾病的可能性,以及软骨发育不全的病理解剖学标准和可能的病理生理机制。