LUNG HYPOPLASIA AND SEVERE PULMONARY-HYPERTENSION IN AN INFANT WITH DOUBLE HETEROZYGOSITY FOR SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA AND ACHONDROPLASIA

Authors
GUNTHARD J FLIEGEL C OHNACKER H RUTISHAUSER M BUHLER E
Citation
J. Gunthard et al., LUNG HYPOPLASIA AND SEVERE PULMONARY-HYPERTENSION IN AN INFANT WITH DOUBLE HETEROZYGOSITY FOR SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA AND ACHONDROPLASIA, Clinical genetics, 48(1), 1995, pp. 35-40
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
48
Issue
1
Year of publication
1995
Pages
35 - 40
Database
ISI
SICI code
0009-9163(1995)48:1<35:LHASPI>2.0.ZU;2-Q
Abstract
A rare instance of double heterozygosity for spondyloepiphyseal dyspla sia congenita and achondroplasia is presented. Despite midface hypopla sia, thorax deformity and lung hypoplasia, the child survived the neon atal period. Severe pulmonary hypertension, already present at birth, led to right heart failure and death at the age of 1 year.