title: Ocular findings in Fryns syndrome.
abstract: OBJECTIVE
  To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia.
  
  
  METHODS
  Case report. The ocular histopathologic and ultrastructural findings in a male fetus with Fryns syndrome who died immediately after his birth at 26th week of gestation are shown.
  
  
  RESULTS
  An abnormal Descemet's membrane was found in addition to "cloudy corneae". Electron microscopy demonstrated absence of the banded collagen fibrils in Descemet's membrane, indicating corneal endothelial dysfunction. Otherwise, the eye was morphologically normal for its age; none of the other reported ocular features of Fryns syndrome were found.
  
  
  CONCLUSIONS
  Corneal endothelial dysfunction might cause abnormal composition of anterior Descemet's membrane and could contribute to the "cloudy cornea" known to occur in Fryns syndrome.
authors.affiliation: Department of Ophthalmology, University Eye Hospital, Friedrich-Alexander-University Erlangen-Nürnberg, Germany. claus.cursiefen@augen.med.uni-erlangen.de
authors.forename: C
authors.initials: C
authors.lastname: Cursiefen
authors.forename: U
authors.initials: U
authors.lastname: Schlötzer-Schrehardt
authors.forename: L M
authors.initials: LM
authors.lastname: Holbach
authors.forename: M
authors.initials: M
authors.lastname: Vieth
authors.forename: K
authors.initials: K
authors.lastname: Kuchelmeister
authors.forename: M
authors.initials: M
authors.lastname: Stolte
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology; D003318:Corneal Opacity / Q000151:congenital* / Q000473:pathology; D003886:Descemet Membrane / Q000473:pathology*; D004728:Endothelium, Corneal / Q000473:pathology*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities; D005313:Fetal Death; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008168:Lung / Q000002:abnormalities; D008297:Male; D013577:Syndrome