P346: Pallister-Killian syndrome due to hexasomy 12p mosaicism found in diaphragmatic fibroblasts
Abstract
The infant developed pulmonary hypertension secondary to pulmonary hypoplasia but had a structurally normal heart. She stabilized after CDH repair and was extubated to non-invasive ventilation by day 51. Severe gastroesophageal reflux disease refractory to medical therapy required Nissen fundoplication with gastrostomy placement on day 106. She was discharged at 5-month of age (after 170 days of hospitalization) on phosphodiesterase-5 inhibitors, diuretics, low-flow nasal cannula, and continuous overnight gastrostomy feedings.
Fields of Study & Subjects
Congenital Diaphragmatic Hernia Studies
Genomic variations and chromosomal abnormalities
Genetic Syndromes and Imprinting
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103840–103840
- Publication date
- 1 January 2026
- Language
- EN