title: Apert syndrome with septum pellucidum agenesis.
abstract: Apert syndrome is characterised by craniosynostosis, associated with maxillary hypoplasia, symmetrical syndactyly of the hands and feet, and other systemic malformations including mental retardation. Apert syndrome and septo-optic dysplasia is rarely described. We describe the classical clinical and radiological findings of this syndrome in a 20-year-old woman. Though early surgical intervention is imperative for optimal outcome, in developing countries, it may not be possible to intervene at the right time due to financial constraints.
authors.affiliation: Department of Radiology, B P Koirala Institute of Health Sciences, Dharan, Nepal.
authors.forename: A
authors.initials: A
authors.lastname: Tiwari
authors.forename: A
authors.initials: A
authors.lastname: Agrawal
authors.forename: A
authors.initials: A
authors.lastname: Pratap
authors.forename: R
authors.initials: R
authors.lastname: Lakshmi
authors.forename: R
authors.initials: R
authors.lastname: Narad
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications*; D000328:Adult; D005260:Female; D006801:Humans; D010641:Phenotype; D011859:Radiography; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000000981:diagnostic imaging