Byline: Lamees Mahmood Malik, Ghazala Aziz Khan, Nadia Ali Azfar and Muhammad Jahangir - Email: maliklamees@yahoo.com

ABSTRACT

Cornelia de Lange syndrome is a rare developmental disorder characterized by hypertrichosis, low intelligence, delayed milestones and skeletal and dental abnormalities. Gastroesophageal dysfunction, ophthalmologic, cardiac and genitourinary anomalies, learning difficulties, and mental retardation may be present in severe cases. We report a case of this syndrome who presented for laser treatment for the problem of hypertrichosis, and on examination other features of the syndrome were noted.

Keywords

Cornelia de Lange syndrome, Brachmann de Lange syndrome

Introduction

Cornelia de Lange syndrome was first described by Cornelia de Lange, a Dutch pediatrician in 1933.1 This syndrome is also called Brachmann de Lange syndrome as a similar case was reported earlier by him in 1916.2 It is a rare developmental disorder that can lead to multiple genetic anomalies characterized by growth and developmental retardation, low birth weight, hypertrichosis, anomalies in the structure of the upper limbs, gastroesophageal dysfunction, ophthalmologic and genitourinary anomalies, congenital diaphragmatic hernia, cardiac septal defect, distinctive facial features, learning difficulties, and mental retardation.3,4

Incidence of this syndrome is variable, ranging from 1:10,000 to 1:100,000 live births in different population groups.4 No differences based on race have been described. It is slightly more common in females as compared to males (F:M is 1.3:1).3,4,5

Gastrointestinal complications are one of the most common causes of death in this syndrome. They include diaphragmatic hernia in infancy and aspiration pneumonia and volvulus at an older age. Other causes of death include congenital heart defects and apnea.6,7,8

The genetic and molecular basis of this syndrome are not clear. However, it is thought to be the result of a dominant mutation. A large number of diagnosed cases seem to be sporadic and 10% of the cases present chromosomal alterations, such as a small duplication of the long arm of chromosome 3 or unbalanced chromosomal rearrangement.9,10 It can be associated with mutations affecting the cohesin complex.

Multiple genes have been associated with the condition. CDL1 (NIPBL) was found responsible in 50% of cases in 2004 by US and UK researchers whereas CDLS 2 (SMC1A) and CDLS3 (SMC3) were detected in 2006 and 2007 by Italian and Americans doctors respectively.10,11

We report a case of Cornelia de Lange...