DefinePK

Abstract

Introduction


de Lange syndrome of unknown etiology was first described by Cornelia de Lange in 19331. It is also known as Brachinann de Lange syndrome2. A survey in Denmark implied the minimum incidence to be one in 50000’. Till now more than 150 cases have been reported1. The presentation of this syndrome includes shortness of stature of a prenatal onset; mental retardation and sluggish physical activity; initial hypertomcity; low pitched, weak, growling cry in infancy; microbrachycephaly; bushy eye brows and synorpluys; long curly eyelashes; small nose; anteverted nostrils; characteristic
lips and mouth; micrognathia; hirsutism; simian crease; proximal implantation of thumbs; flexion contracture of elbows; ni.icrornelia and syndactaly of second and third toes1. A literature search on medline, did not show any reported case of Cornelia de Lange syndrome from Pakistan.