We report the case of a term infant with cystic hygroma revealed by fetal ultrasound scanning and characteristic craniofacial dysmorphism at birth, compatible with a clinical picture of Noonan syndrome. The infant had a significant factor XII deficiency, found also in his parents. In the following months, a worsening of cardiorespiratory function, due to a rapidly progressive hypertrophic cardiomyopathy, occurred, causing the death of the infant.
|Autori:||Ghirri P; Vuerich M; Fantoni M; Cuttano A; Merusi I; Ciulli C; Bottone U; Boldrini A|
|Titolo:||A case of Noonan syndrome with unusual clinical severity and familial factor XII deficiency|
|Anno del prodotto:||2000|
|Appare nelle tipologie:||1.1 Articolo in rivista|