Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Apert syndrome associated with septo-optic dysplasia. Pediatr Neurol 1989 Nov-Dec;5(6):384-8

Date

11/01/1989

Pubmed ID

2604803

DOI

10.1016/0887-8994(89)90055-6

Abstract

Apert syndrome and septo-optic dysplasia are rare congenital structural disorders which have not been associated previously; we report a female infant with this association. Brain sonography and computed tomography revealed agenesis of the septum pellucidum; optic hypoplasia was demonstrated by funduscopic evaluation. We postulate that an embryopathic factor, which manifests at 5-6 weeks gestation, may result in this new association. Transverse craniectomy was performed in the hope of preserving brain development. Neither hypopituitarism nor adrenal insufficiency was observed; however, clinical manifestations and laboratory data provided evidence of inappropriate antidiuretic hormone syndrome.

Author List

Teng RJ, Wang PJ, Wang TR, Shen YZ

Author

Ru-Jeng Teng MD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Acrocephalosyndactylia
Female
Humans
Infant
Radiography
Retinal Dysplasia
Septum Pellucidum
jenkins-FCD Prod-411 e00897e83867fcfa48419861683711f8d99adb75