PURPOSE: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance. She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect. In addition, she showed psychological lag and developmental impairment. RESULTS: We performed entropion correction surgery, administered medical therapy for superficial keratitis and prescribed glasses for her myopia. CONCLUSIONS: This is the first case report on the successful correction of entropion with Cornelia de Lange syndrome in Korea.
PURPOSE:Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance. She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect. In addition, she showed psychological lag and developmental impairment. RESULTS: We performed entropion correction surgery, administered medical therapy for superficial keratitis and prescribed glasses for her myopia. CONCLUSIONS: This is the first case report on the successful correction of entropion with Cornelia de Lange syndrome in Korea.
Authors: Leah Dowsett; Antonio R Porras; Paul Kruszka; Brandon Davis; Tommy Hu; Engela Honey; Eben Badoe; Meow-Keong Thong; Eyby Leon; Katta M Girisha; Anju Shukla; Shalini S Nayak; Vorasuk Shotelersuk; Andre Megarbane; Shubha Phadke; Nirmala D Sirisena; Vajira H W Dissanayake; Carlos R Ferreira; Monisha S Kisling; Pranoot Tanpaiboon; Annette Uwineza; Leon Mutesa; Cedrik Tekendo-Ngongang; Ambroise Wonkam; Karen Fieggen; Leticia Cassimiro Batista; Danilo Moretti-Ferreira; Roger E Stevenson; Eloise J Prijoles; David Everman; Kate Clarkson; Jessica Worthington; Virginia Kimonis; Fuki Hisama; Carol Crowe; Paul Wong; Kisha Johnson; Robin D Clark; Lynne Bird; Diane Masser-Frye; Marie McDonald; Patrick Willems; Elizabeth Roeder; Sulgana Saitta; Kwame Anyane-Yeoba; Laurie Demmer; Naoki Hamajima; Zornitza Stark; Greta Gillies; Louanne Hudgins; Usha Dave; Stavit Shalev; Victoria Siu; Ann Ades; Holly Dubbs; Sarah Raible; Maninder Kaur; Emanuela Salzano; Laird Jackson; Matthew Deardorff; Antonie Kline; Marshall Summar; Maximilian Muenke; Marius George Linguraru; Ian D Krantz Journal: Am J Med Genet A Date: 2019-01-06 Impact factor: 2.802
Authors: Antonie D Kline; Marco Grados; Paul Sponseller; Howard P Levy; Natalie Blagowidow; Christianne Schoedel; Joni Rampolla; Douglas K Clemens; Ian Krantz; Amy Kimball; Carmen Pichard; David Tuchman Journal: Am J Med Genet C Semin Med Genet Date: 2007-08-15 Impact factor: 3.908