A case of Noonan syndrome with unusual clinical severity and familial factor XII deficiency

Authors
Ghirri, P Vuerich, M Fantoni, M Cuttano, A Merusi, I Ciulli, C Bottone, U Boldrini, A
Citation
P. Ghirri et al., A case of Noonan syndrome with unusual clinical severity and familial factor XII deficiency, PRENAT N M, 5(3), 2000, pp. 193-196
Citations number
20
Categorie Soggetti
Reproductive Medicine
Journal title
PRENATAL AND NEONATAL MEDICINE
ISSN journal
13598635 → ACNP
Volume
5
Issue
3
Year of publication
2000
Pages
193 - 196
Database
ISI
SICI code
1359-8635(200006)5:3<193:ACONSW>2.0.ZU;2-C
Abstract
We report the case of a term infant with cystic hygroma revealed by fetal u ltrasound scanning and characteristic craniofacial dysmorphism at birth, co mpatible with a clinical picture of Noonan syndrome. The infant had a signi ficant factor XII deficiency, found also in his parents. In the following m onths, a worsening of cardiorespiratory function, due to a rapidly progress ive hypertrophic cardiomyopathy, occurred, causing the death of the infant.