Literature DB >> 25566737

[Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].

G Avgitidou1, C Cursiefen, L M Heindl.   

Abstract

A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction.

Entities:  

Mesh:

Year:  2015        PMID: 25566737     DOI: 10.1007/s00347-014-3171-4

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  3 in total

Review 1.  [Therapy for congenital dacryostenosis].

Authors:  S Grewe
Journal:  Klin Monbl Augenheilkd       Date:  2010-07-19       Impact factor: 0.700

2.  Ophthalmologic findings in the Cornelia de Lange Syndrome.

Authors:  Tamara Wygnanski-Jaffe; John Shin; Enza Perruzza; Mohamed Abdolell; Laird G Jackson; Alex V Levin
Journal:  J AAPOS       Date:  2005-10       Impact factor: 1.220

3.  Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

Authors:  Sudha Nallasamy; Femida Kherani; Dinah Yaeger; Jennifer McCallum; Maninder Kaur; Marcella Devoto; Laird G Jackson; Ian D Krantz; Terri L Young
Journal:  Arch Ophthalmol       Date:  2006-04
  3 in total
  1 in total

Review 1.  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Authors:  Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam
Journal:  Nat Rev Genet       Date:  2018-10       Impact factor: 53.242

  1 in total

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