title: Ocular findings in cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome).
abstract: OBJECTIVE
  To report the ocular findings in cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  A five-month-old male infant presented with bilateral posterior polar cataract, microphthalmos, nystagmus, and marked non-glaucomatous optic nerve atrophy. Systemic abnormalities such as microcephaly, micrognathia, flexion contractures of the elbows and knees, hypotonic musculature, and failure to thrive, with pronounced statomotor retardation, led to the diagnosis of cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. Cataract surgery did not improve the poor visual performance.
  
  
  CONCLUSIONS
  Cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome) should be included in the differential diagnosis of bilateral microphthalmos, congenital cataract, nystagmus, and pronounced optic nerve atrophy, and cataract surgery does not markedly improve vision.
authors.affiliation: Department of Ophthalmology, Eye Hospital, University Erlangen-Nürnberg, Germany. Jost.Jonas@augen.ma.uni-heidelberg.de
authors.forename: J B
authors.initials: JB
authors.lastname: Jonas
authors.forename: U
authors.initials: U
authors.lastname: Mayer
authors.forename: W M
authors.initials: WM
authors.lastname: Budde
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D008850:Microphthalmos / Q000175:diagnosis*; D020417:Nystagmus, Congenital / Q000175:diagnosis*; D009896:Optic Atrophy / Q000175:diagnosis*; D013577:Syndrome