Sandhu Meera, Nagpal Mehak, Gulia Shweta, Sachdev Vinod
Professor, Department of Pedodontics and Preventive Dentistry, ITS-CDSR , Muradnagar, Ghaziabad, U.P, India .
Post-Graduate Student, Department of Pedodontics and Preventive Dentistry, ITS-CDSR , Muradnagar, Ghaziabad, U.P, India .
J Clin Diagn Res. 2015 Feb;9(2):ZD12-4. doi: 10.7860/JCDR/2015/11225.5597. Epub 2015 Feb 1.
Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital defect often called as Amsterdam dwarfism. The physical phenotype of CdLS includes low birth body weight, short stature and facio-cranial dysmorphia. The diagnosis of the syndrome is based on clinical grounds as there is no biochemical or chromosomal markers for CDLS that makes its diagnosis more complicated. The purpose of this paper is to present a clinical report of a boy emphasizing the importance of multidisciplinary approach for the diagnosis and treatment of this syndrome.
科妮莉亚·德·朗格综合征（CdLS）是一种罕见的多发性先天性缺陷，常被称为阿姆斯特丹侏儒症。CdLS的身体表型包括低出生体重、身材矮小和面颅畸形。该综合征的诊断基于临床依据，因为目前尚无用于CdLS的生化或染色体标志物，这使得其诊断更加复杂。本文旨在呈现一名男孩的临床报告，强调多学科方法在该综合征诊断和治疗中的重要性。
