Diagn贸stico prenatal de osteog茅nesis imperfecta tipo I
- 作者：Raquel Garcí ; a Delgado ; Miguel Á ; ngel Barber Marrero ; mabarber@mac.com ; Patricia Ló ; pez Gutié ; rrez ; Raquel Garcí ; a Rodrí ; guez ; Walter Plasencia Acevedo ; José ; Á ; ngel Garcí ; a Herná ; ndez
- 关键词：Osteogé ; nesis imperfecta ; Diagnó ; stico prenatal ; Ecografí ; a tridimensional
- 刊名：Diagn贸stico Prenatal
- 出版年：2011
- 期刊代码：pca115_21734127
- 类别：med
- 出版时间：July-September 2011
- 卷：22
- 期：3
- 页码：97-99
- 文件大小：274 K
摘要
Osteogenesis imperfecta is a heterogeneous group of hereditary disorders characterised by the anomalous formation of type I collagen. There are four subtypes, all hereditary, but type II, a lethal subtype, is the most frequently prenatally diagnosed. The frequency can vary and depends on the type.
Prenatal diagnosis is possible if features such as long bone fractures in the foetus are identified. Prognosis depends on symptom severity. We present two cases diagnosed prenatally by means of ultrasound and confirmed afterwards.