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.
Ghirri, Paolo; Vuerich, M; Fantoni, M; Cuttano, A; Merusi, I; Ciulli, C; Bottone, U; Boldrini, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/190674
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