开放期刊系统

Cri du chat 综合征的皮肤和口腔粘膜损伤

莉莉 ·埃, 劳拉 ·费, 玛丽 亚·, 杰苏 斯·, 朱迪 斯·, 西尔 维娅

摘要

猫叫或“cri du chat”综合征患者通常表现为该病症的标志性症状。本手稿的目的是报告在皮肤和口腔粘膜
中观察到的结果,考虑到这些解剖部位的损伤描述稀少,该发现导致了一名 19 岁女性猫叫综合征患者的高发病率。
描述了营养、神经和皮肤学表现;实验室发现也包括在内。讨论了临床结果对患者营养状况不足的影响。强调该方
法是为了改善该患者的口腔内诊断、管理和生活质量。

关键词

口腔疾病;Cri du chat 综合征;溃疡

全文:

PDF

参考

[1] Overhauser J, Huang X, Gersh M, et al. Molecular

and phenotypic mapping of the short arm of chromosome

5: sublocalization of the critical region for the cri-du-chat

syndrome. Hum Mol Genet 1994; 3: 247–252.

[2] Simmons AD, Goodard SA, Gallardo TD, et al. Five

novel genes from the cri-du-chat critical region isolated by

direct selection. Hum Mol Genet 1995; 4: 295-302.

[3] Lejeune J, Lafourcade J, Berger R, et al. Trois cas de

délétion partielle du bras court d’un chromosome 5. C R

Hebd Seances Acad Sci 1963; 257: 3098-3102.

[4] Higurashi M, Oda M, Iijima K, et al. Livebirth

prevalence and follow-up of malformation syndromes in

27,472 newborns. Brain Dev 1990; 12: 770-773.

[5] Niebuhr E. The Cri du Chat syndrome: epidemiology,

cytogenetics, and clinical features. Hum Genet 1978; 44:

227–275.

[6] Yáñez-Vico RM, Rodríguez-Caballero A,

Iglesias-Linares A, et al. Craniofacial characteristics in cridu-chat syndrome. Oral Surg Oral Med Oral Pathol Oral

Radiol Endod 2010; 110: e38-44.

[7] Colover J, Lucas M, Comley JA, et al. Neurological

abnormalities in the ‘cri-du-chat’ syndrome. J Neurol

Neurosurg Psychiatry 1972; 35: 711-719.

[8] Mainardi PC, Pastore G, Castronovo C, et al. The

natural history of Cri du Chat Syndrome. A report from the

Italian Register. Eur J Med Genet 2006; 49: 363–383.

[9] Marinescu RC, Cerruti Mainardi P, Collins MR, et

al. Growth charts for cri-du-chat syndrome: an international

collaborative study. Am J Med Genet 2000; 94: 153–162.

[10] Solanki J, Khetan J, Gupta S, et al. Oral

rehabilitation and management of mentally retarded. J Clin

Diagn Res 2015; 9: ZE01-6.

[11] Liu Z, Yu D, Luo W, et al. Impact of oral health

behaviors on dental caries in children with intellectual

disabilities in Guangzhou, China. Int J Environ Res Public

Health 2014; 11: 11015-11027.

[12] Molina-García A, Castellanos-Cosano L,

Machuca-Portillo G, Posada-de la Paz M. Impact of rare

diseases in oral health. Med Oral Patol Oral Cir Bucal 2016;

21: e587-594.

[13] Danser MM, Gómez SM, van der Weijden GA.

Tongue coating and tongue brushing: a literature review. Int J

Dent Hyg 2003; 1: 151-158.

[14] Collins MS, Cornish K. A survey of the prevalence of

stereotypy, self-injury and aggression in children and young

adults with Cridu Chat syndrome. J Intellectual Disability Res

2002; 46: 133-140.


(44 摘要 Views, 90 PDF Downloads)

Refbacks

  • 当前没有refback。