title: Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas.
authors.affiliation: Departments of Neurology Orthopaedics and Rehabilitation Ophthalmology Radiology Oregon Health and Science University, Portland, Oregon, USA.
authors.forename: Eric M
authors.initials: EM
authors.lastname: Edgar
authors.forename: Hans L
authors.initials: HL
authors.lastname: Carlson
authors.forename: Robert A
authors.initials: RA
authors.lastname: Egan
authors.forename: Louis P
authors.initials: LP
authors.lastname: Riccelli
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Cupler
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002081:Buttocks; D002493:Central Nervous System Diseases / Q000175:diagnosis*; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities*; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis; D009900:Optic Nerve / Q000002:abnormalities*; D010388:Pelvis / Q000473:pathology