title: Apert syndrome associated with septo-optic dysplasia.
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.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei.
authors.forename: R J
authors.initials: RJ
authors.lastname: Teng
authors.forename: P J
authors.initials: PJ
authors.lastname: Wang
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Shen
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D011859:Radiography; D015792:Retinal Dysplasia / Q000150:complications*; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000000981:diagnostic imaging