Pallister-Hall Syndrome: Presentation and Prognosis
Pallister-Hall syndrome is a genetic disorder. The gene encoding the zinc finger transcriptional activator protein on chromosome 7p14.1 is mutated. This mutation results in hyperplasia of neurons admixed with astrocytes and decreased white matter. In addition, hypothalamic hamartomas on floor of the third ventricle are the characteristic finding. The individual with Pallister-Hall syndrome presents with: - Endocrine abnormalities - Bifid epiglottis - Atretic anus - Renal disorders - Genitourinary anomalies - Limb malformation - Craniofacial abnormalities - Pulmonary segmentation anomalies The prognosis depends on the severity of malformations. In case of severe airway malformation, laryngotracheal clefts, and panhypopitutarism, the prognosis is worse. Reference: https://radiopaedia.org/articles/pallister-hall-syndrome?lang=us Image via: https://www.sciencedirect.com/topics/nursing-and-health-professions/pallister-hall-syndrome