title: Congenital absence of the nasolacrimal duct in velocardiofacial syndrome.
abstract: Velocardiofacial syndrome (VCFS, or Shprintzen syndrome) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: cleft palate, cardiac anomalies, typical facies, and learning disabilities. Ophthalmologic abnormalities are seen in 70% of cases and include posterior embryotoxon, bilateral cataracts, tortuous retinal vessels, and small optic disks. Congenital absence of the nasolacrimal duct is a rare condition with only a few cases reported, most of which describe complete bony occlusion at the distal end of the lacrimal sac. We report a patient with VCFS with congenital absence of the membranous nasolacrimal duct, a finding confirmed at endoscopic dacryocystorhinostomy. The patient was successfully treated with dacryocystorhinostomy and insertion of Jones tubes. To our knowledge, this is the first report documenting absence of the membranous nasolacrimal duct and also the first time this finding has been described in association with VCFS.
authors.affiliation: South Australian Institute of Ophthalmology and Department of Ophthalmology and Visual Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors.forename: Venkatesh C
authors.initials: VC
authors.lastname: Prabhakaran
authors.forename: Garry
authors.initials: G
authors.lastname: Davis
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Wormald
authors.forename: Dinesh
authors.initials: D
authors.lastname: Selva
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003608:Dacryocystorhinostomy / Q000379:methods; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000601:surgery; D003937:Diagnosis, Differential; D004724:Endoscopy / Q000379:methods; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000151:congenital / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D009301:Nasolacrimal Duct / Q000002:abnormalities*