Neonatal Syndrome Present in Adulthood: A New Perspective of Cornelia De Lang Syndrome - A Case Report

Asian Journal of Pharmaceutical and Health Sciences,2012,2,3,353-356.
Published:August 2012
Type:Case Report
Author(s) affiliations:

Vela D Desai1, Rajdeep Kaur1

Department of Oral Medicine and Radiology, Jaipur Dental College, Jaipur, Rajasthan, India.


Cornelia de Lange is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates, but its genetic bases is still not clearly established. Delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristics are the classical presentation. Dental problems are frequent and include: ogival palate, micrognathia, dental malalignment, delayed teething, microdontic teeth, periodontal disease and dental erosion produced by gastric reflux. The authors discuss here the case of a family affected with this syndrome i.e. 40 year old female patient, her sibling of 47 years old and also father. The oldest reported case till date is of 29 years where as in present case the patent aged 40 years and 47 years of the sibling. The patient also presents with uncommon radiographic findings which are not mentioned in the literature.

40 year old patient revealed microbrachycephaly