| Literature DB >> 25859533 |
Meera Sandhu1, Mehak Nagpal2, Shweta Gulia2, Vinod Sachdev3.
Abstract
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.Entities:
Keywords: Brachmann syndrome; Facio-cranial dysmorphia; Hirsutism, Synophrys
Year: 2015 PMID: 25859533 PMCID: PMC4378816 DOI: 10.7860/JCDR/2015/11225.5597
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X