title: Optic disc anomalies and frontonasal dysplasia.
abstract: OBJECTIVE
  To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele.
  
  
  METHODS
  Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible.
  
  
  RESULTS
  Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other.
  
  
  CONCLUSIONS
  Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.
authors.affiliation: Department of Ophthalmology, Great Ormond Street Hospital for Children, London.
authors.forename: P
authors.initials: P
authors.lastname: Hodgkins
authors.forename: M
authors.initials: M
authors.lastname: Lees
authors.forename: J
authors.initials: J
authors.lastname: Lawson
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: J
authors.initials: J
authors.lastname: Leitch
authors.forename: P
authors.initials: P
authors.lastname: Thorogood
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: D S
authors.initials: DS
authors.lastname: Taylor
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D004677:Encephalocele / Q000473:pathology*; D006801:Humans; D009898:Optic Disk / Q000002:abnormalities*