Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis

Current Paediatrics - Tập 6 - Trang 69-73 - 1996
M. Ireland1
1Department of Human Genetics, 19-20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK

Tài liệu tham khảo

Ireland, 1993, Cornelia de Lange syndrome-photo essay, Clinical Dysmorphology, 2, 151, 10.1097/00019605-199304000-00011 de Lange, 1933, Sur un type nouveau de degénération, Archives de Médecine des Enfants, 12, 713 Oostra, 1994, Brachmann-de Lange syndrome “Avant la Lettre”, Am J Med Genet, 52, 267, 10.1002/ajmg.1320520303 Smithells, 1965, De Lange's Amsterdam dwarfs syndrome, Develop Med Child Neurol, 7, 27, 10.1111/j.1469-8749.1965.tb10877.x Ptacek, 1963, The Cornelia de Lange Syndrome, J Paediat, 63, 1000, 10.1016/S0022-3476(63)80234-6 Ireland, 1993, Brachmann-de Lange syndrome. Delincation of the clinical phenotype, Am J Med Genet, 47, 959, 10.1002/ajmg.1320470705 Kline, 1993, Growth manifestations in the Brachmann-de Lange syndrome, Am J Med Genet, 47, 1042, 10.1002/ajmg.1320470722 Goodban, 1993, Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome, Am J Med Genet, 47, 1059, 10.1002/ajmg.1320470725 Levin, 1990, Ophthalmologic findings in the Cornelia de Lange syndrome, J Pediat Ophthalmol Strabismus, 27, 94, 10.3928/0191-3913-19900301-11 Kaga, 1995, Auditory brainstem responses in children with Cornelia de Lange syndrome, Int J Pediatr Otorhinolaryngol, 31, 137, 10.1016/0165-5876(94)01078-C Sommer, 1993, Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome, Am J Med Genet, 47, 1026, 10.1002/ajmg.1320470719 Bull, 1993, Gastrointestinal abnormalities: A significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome, Am J Med Genet, 47, 1029, 10.1002/ajmg.1320470720 Cunniff, 1993, Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome, Am J Med Genet, 47, 1018, 10.1002/ajmg.1320470716 Ireland, 1991, A de novo translocation t(3:17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome, J Med Genet, 28, 639, 10.1136/jmg.28.9.639 Ireland, 1995, Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype, J Med Genet, 32, 837, 10.1136/jmg.32.10.837 Chodirker, 1994, Male-to-male transmission of mild Brachmann-de Lange syndrome, Am J Med Genet, 52, 331, 10.1002/ajmg.1320520315 Fryns, 1987, The Brachmann-de Lange syndrome in two siblings of normal parents, Clin Genet, 31, 413, 10.1111/j.1399-0004.1987.tb02835.x