Article
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
American journal of medical genetics. Part A - 1 Mar 2015
Li Mindy H, Eberhard Moriah, Mudd Pamela, Javia Luv, Zimmerman Robert, Khalek Nahla, Zackai Elaine H
Abstract excerpt
Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with...
Topics
- Anus, Imperforate
- Biopsy
- Comparative Genomic Hybridization
- Fatal Outcome
- Female
- Hirschsprung Disease
- Humans
- Infant, Newborn
- Karyotype
- Kruppel-Like Transcription Factors