Human Aicardi Syndrome 1

Update Item Information
Identifier walsh_1977_s5_c2
Title Human Aicardi Syndrome 1
Creator J. Raymond Buncic
Subject Eye Proteins; Coloboma; Aicardi Syndrome; Agenesis of Corpus Callosum; Eye Diseases, Hereditary; Pupil Disorders; Myoclonus
History A premature female infant with respiratory distress syndrome and multiple congenital anomalies.
Pathology Endodermal sinus tumor
Disease/Diagnosis Aicardi Syndrome with chorioretinal and optic nerve lesions
Clinical On admission, besides respiratory distress, the child showed a plagiocephalic head, an unfolded flap of the major helix of the right ear, bilateral iris colobomata with a chorioretinal coloboma on the right; RAPD OD
Presenting Symptom Plagiocephalic head; Bilateral iris colobomata with a chorioretinal coloboma on the right; Seizures
Neuroimaging CT
Treatment N/A
References N/A
Language eng
Format application/pdf
Type Text
Source 1977 Walsh Proceedings
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s66w9dvx
Contributor Primary Buncic, J. Raymond
Setname ehsl_novel_fbw
ID 178444
Reference URL https://collections.lib.utah.edu/ark:/87278/s66w9dvx