Article
Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.
Congenital anomalies - 1 Jun 2010
Hosokawa Shinichi, Takahashi Nobumasa, Kitajima Hiroyuki, Nakayama Masahiro, Kosaki Kenjirou, Okamoto Nobuhiko
Abstract excerpt
We report herein a case of Brachmann-de Lange syndrome complicated with congenital diaphragmatic hernia in which a NIPBL gene mutation was identified. A female infant born at 37 weeks of gestation died 134 min after delivery, even though endotracheal intubation and resuscitation were performed immediately after the scheduled caesarean operation. We diagnosed the infant with Brachmann-de Lange syndrome from her...
Topics
- Cell Cycle Proteins
- Codon, Nonsense
- De Lange Syndrome
- Female
- Hernia, Diaphragmatic
- Hernias, Diaphragmatic, Congenital
- Humans
- Infant, Newborn
- Mutation
- Pregnancy
- Proteins