Scarpelli Ana C, Pordeus Isabela A, Resende Vera L, Castilho Lia S, Marques Leandro S, Paiva Saul M
Cleft Palate Craniofac J. 2011 Jul;48(4):490-3. doi: 10.1597/10-025. Epub 2010 Jun 10.
Cornelia de Lange syndrome is a rare multisystem disorder characterized by a distinctive facial appearance, delayed growth and psychomotor skills, behavioral problems, malformation of the upper limbs, and impairment on the quality of life of affected subjects. This article reports a case of a child with the syndrome, emphasizing the orofacial manifestations. Knowledge on the etiopathological aspects and characteristic features of this condition is essential so that professionals can provide health care and help improve the quality of life of affected individuals and their families.
科妮莉亚·德朗热综合征是一种罕见的多系统疾病，其特征为独特的面部外观、生长发育迟缓和精神运动技能迟缓、行为问题、上肢畸形以及对受影响个体生活质量的损害。本文报告了一例患有该综合征的儿童病例，重点强调口面部表现。了解这种疾病的病因病理方面和特征至关重要，以便专业人员能够提供医疗保健并帮助改善受影响个体及其家庭的生活质量。
