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Panhypopituitarism and Bifid Uvula.
J ASEAN Fed Endocr Soc
June 2023
Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research - Seth Sukhlal Karnani Memorial Hospital, West Bengal, India.
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
BMC Neurol
March 2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, NICU, Milan, Italy.
Background: Pallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the GLI3 gene. The cardinal feature of Pallister-Hall syndrome is the presence of hypothalamic hamartomas, which may manifest with seizures, panhypopituitarism and visual impairment. In Pallister-Hall syndrome, dysplastic histogenetic processes responsible for hypothalamic hamartomas are thought to disrupt early craniofacial development.
View Article and Find Full Text PDFTotal colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
Am J Med Genet A
March 2015
Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
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.
View Article and Find Full Text PDFA deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism.
Clin Dysmorphol
July 2005
Division of Genetics and Genomic Medicine Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine in St Louis, St Louis, Missouri, USA.
We describe a newborn male with a constitutional deletion of proximal chromosome 20p involving band p11.2. The phenotype included panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes.
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