Familial asphyxiating thoracic dysplasia: Clinical variability and impact of improved neonatal intensive care

Authors
Kajantie, E Andersson, S Kaitila, I
Citation
E. Kajantie et al., Familial asphyxiating thoracic dysplasia: Clinical variability and impact of improved neonatal intensive care, J PEDIAT, 139(1), 2001, pp. 130-133
Citations number
12
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
139
Issue
1
Year of publication
2001
Pages
130 - 133
Database
ISI
SICI code
0022-3476(200107)139:1<130:FATDCV>2.0.ZU;2-G
Abstract
We describe 3 siblings with asphyxiating thoracic dysplasia whose neonatal symptoms range from mild respiratory distress to asphyxia and death. The yo ungest sibling received aggressive modern respiratory intensive care, survi ved, and at 2 years showed no respiratory symptoms. Improved neonatal inten sive care has implications for clinical decision making and genetic counsel ing. (J Pediatr 2001;139:130-3).