title: Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.
abstract: OBJECTIVE
  Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients.
  
  
  METHODS
  Twenty-nine patients with oculo-auriculo-vertebral spectrum (mean age, 7 years; age range, 0.2-31 years; 12 females) underwent brain MR imaging, CT, and neurologic evaluation; 19 patients had a more severe phenotype (Goldenhar syndrome).
  
  
  RESULTS
  Cranial nerve abnormalities were detected only in patients with Goldenhar syndrome (17/19, bilaterally in 8) and were involved the second (4/19), third (1/18), fifth (11/19), sixth (8/16), seventh (11/18), and eighth (8/18) cranial nerves. Multiple cranial nerve abnormalities were common (11/17). Eleven patients showed bone foramina abnormalities. Trigeminal and facial nerve dysfunctions were common (44% and 58%, respectively), especially in patients with Goldenhar syndrome. Trigeminal abnormalities showed a good correlation with ipsilateral dysfunction (P = .018), which further increased when bone foramina abnormalities were included. The facial nerve showed a trend toward correlation with ipsilateral dysfunction (P = .081). Diplopia was found only in patients with Goldenhar syndrome and was associated with third and sixth cranial nerve abnormalities (P = .006).
  
  
  CONCLUSIONS
  Among patients with oculo-auriculo-vertebral spectrum, cranial nerve morphologic abnormalities are common, correlate with phenotype severity, and often entail a functional impairment. The spectrum of cranial nerve abnormalities appears wider than simple hypo-/aplasia and includes an anomalous cisternal course and partial/complete fusion of diverse cranial nerves.
authors: From Neuroradiology (R.Manara), University of Salerno, Salerno Italy rmanara@unisa.it.
authors: R
authors: R
authors: Manara
authors: Departments of Neuroscience (D.B., S.G., G.S., R.B., A.M.).
authors: D
authors: D
authors: Brotto
authors: Departments of Neuroscience (D.B., S.G., G.S., R.B., A.M.).
authors: S
authors: S
authors: Ghiselli
authors: Neuroradiology (R.Mardari), University Hospital of Padova, Padova, Italy.
authors: R
authors: R
authors: Mardari
authors: Pediatrics (I.T.), University of Padova, Padova, Italy.
authors: I
authors: I
authors: Toldo
authors: Departments of Neuroscience (D.B., S.G., G.S., R.B., A.M.).
authors: G
authors: G
authors: Schifano
authors: Ear Nose and Throat Section (E.C.), Department of Neurosciences, "Federico II" University, Napoli, Italy.
authors: E
authors: E
authors: Cantone
authors: Departments of Neuroscience (D.B., S.G., G.S., R.B., A.M.).
authors: R
authors: R
authors: Bovo
authors: Departments of Neuroscience (D.B., S.G., G.S., R.B., A.M.).
authors: A
authors: A
authors: Martini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003391:Cranial Nerves / Q000002:abnormalities*; D005260:Female; D006053:Goldenhar Syndrome / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D055815:Young Adult