title: Neuroimaging features of Cornelia de Lange syndrome.
abstract: BACKGROUND
  Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented.
  
  
  OBJECTIVE
  To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome.
  
  
  METHODS
  The CT/MR database at a single academic children's hospital was searched for the terms "Cornelia," "Brachmann" and "de Lange." The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist.
  
  
  RESULTS
  All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord.
  
  
  CONCLUSIONS
  Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present.
authors.affiliation: Department of Radiology, 111 Michigan Ave. NW, Washington, DC, 20010, USA, matthewthomaswhitehead@gmail.com.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
authors.forename: Usha D
authors.initials: UD
authors.lastname: Nagaraj
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D012189:Retrospective Studies; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed; D055815:Young Adult