Apert syndrome with septum pellucidum agenesis.
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.
Tiwari
A
A
Department of Radiology, B P Koirala Institute of Health Sciences, Dharan, Nepal.
Agrawal
A
A
Pratap
A
A
Lakshmi
R
R
Narad
R
R
D000168:Acrocephalosyndactylia / Q000150:complications*; D000328:Adult; D005260:Female; D006801:Humans; D010641:Phenotype; D011859:Radiography; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000000981:diagnostic imaging