典型科妮莉亚·德朗热综合征
Classical cornelia de lange syndrome.
作者信息
Badoe Ev
机构信息
Department of Child Health, University of Ghana Medical School, College of Health Sciences, P.O. Box 4236, Accra, Ghana.
出版信息
Ghana Med J. 2006;40(4):148-50.
Abstract
SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.
摘要
总结
这两份病例报告说明了对所有所谓“多发性先天性畸形”儿童进行全面的畸形学检查并试图将他们归入已确认综合征的重要性。目前已确认的畸形综合征超过2000种，对这些儿童进行诊断可能极其困难。
相似文献
1
Classical cornelia de lange syndrome.
Ghana Med J. 2006;40(4):148-50.
2
[Brachmann-de Lange syndrome in 16 of our patients].
Monatsschr Kinderheilkd. 1990 Feb;138(2):72-6.
3
A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
Singapore Med J. 2006 Aug;47(8):724-7.
4
[Neonatal Cornelia de Lange syndrome].
Rev Neurol. 2004;38(11):1027-31.
5
Anesthetic management of an adult patient with Cornelia de Lange Syndrome.
Minerva Anestesiol. 2010 Mar;76(3):229-31. Epub 2010 Feb 5.
6
Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome.
Neuropsychol Rehabil. 2005 May;15(2):147-60. doi: 10.1080/09602010443000092.
7
[General anesthesia in a patient with Cornelia de Lange syndrome with restricted opening of the mouth].
Masui. 1998 May;47(5):611-4.
8
[A patient with Cornelia de Lange syndrome with difficulty in orotracheal intubation].
Masui. 1996 Aug;45(8):991-3.
9
Cornelia de Lange syndrome--photo essay.
Clin Dysmorphol. 1993 Apr;2(2):151-60.
10
The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.
J Intellect Disabil Res. 2005 Apr;49(Pt 4):269-77. doi: 10.1111/j.1365-2788.2005.00649.x.
引用本文的文献
1
Dental Management of a Patient with Special Health Care Needs.
Case Rep Dent. 2021 Feb 3;2021:6692325. doi: 10.1155/2021/6692325. eCollection 2021.
2
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.
3
Cornelia de-lange syndrome: a case report.
Int J Clin Pediatr Dent. 2013 May;6(2):115-8. doi: 10.5005/jp-journals-10005-1201. Epub 2013 Aug 26.
4
Cornelia de lange syndrome.
Indian J Hum Genet. 2008 Jan;14(1):23-6. doi: 10.4103/0971-6866.42324.
本文引用的文献
1
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18.
2
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16.
3
Autosomal dominant inheritance of Brachmann-de Lange syndrome.
Am J Med Genet. 1996 Dec 30;66(4):445-8. doi: 10.1002/(SICI)1096-8628(19961230)66:4<445::AID-AJMG12>3.0.CO;2-U.
4
Brachmann-de Lange syndrome. Delineation of the clinical phenotype.
Am J Med Genet. 1993 Nov 15;47(7):959-64. doi: 10.1002/ajmg.1320470705.
5
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome.
Am J Med Genet. 1993 Nov 15;47(7):1059-63. doi: 10.1002/ajmg.1320470725.
6
Growth manifestations in the Brachmann-de Lange syndrome.
Am J Med Genet. 1993 Nov 15;47(7):1042-9. doi: 10.1002/ajmg.1320470722.
7
Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome.
Am J Med Genet. 1993 Nov 15;47(7):1029-34. doi: 10.1002/ajmg.1320470720.
8
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.
Am J Med Genet. 1993 Nov 15;47(7):1018-21. doi: 10.1002/ajmg.1320470716.
9
Brachmann-de Lange syndrome "avant la lettre".
Am J Med Genet. 1994 Sep 1;52(3):267-8. doi: 10.1002/ajmg.1320520303.
Zotero 插件