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.
A case of Noonan syndrome with unusual clinical severity and familial factor XII deficiency
GHIRRI, PAOLO;BOLDRINI, ANTONIO
2000-01-01
Abstract
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.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
