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J Clin Diagn Res. 2015 Feb;9(2):ZD12-4. doi: 10.7860/JCDR/2015/11225.5597. Epub 2015 Feb 01.

Dental management of cornelia de lange syndrome: a rare case report.

Journal of clinical and diagnostic research : JCDR

Meera Sandhu, Mehak Nagpal, Shweta Gulia, Vinod Sachdev

Affiliations

  1. Professor, Department of Pedodontics and Preventive Dentistry, ITS-CDSR , Muradnagar, Ghaziabad, U.P, India .
  2. Post-Graduate Student, Department of Pedodontics and Preventive Dentistry, ITS-CDSR , Muradnagar, Ghaziabad, U.P, India .
  3. Head of Department and Professor, Department of Pedodontics and Preventive Dentistry, ITS-CDSR , Muradnagar, Ghaziabad, U.P, India .

PMID: 25859533 PMCID: PMC4378816 DOI: 10.7860/JCDR/2015/11225.5597

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.

Keywords: Brachmann syndrome; Facio-cranial dysmorphia; Hirsutism, Synophrys

References

  1. J Indian Soc Pedod Prev Dent. 2005 Mar;23(1):38-41 - PubMed
  2. Med Oral Patol Oral Cir Bucal. 2007 Oct 01;12(6):E445-8 - PubMed
  3. Yonsei Med J. 2009 Apr 30;50(2):289-92 - PubMed
  4. Contemp Clin Dent. 2012 Apr;3(Suppl 1):S86-91 - PubMed
  5. Am J Med Genet. 1993 Nov 15;47(7):940-6 - PubMed

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