Abstract

Cornelia de-Lange syndrome (CdLS) is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormalities. A 2 year old boy referred to us by pediatrician with delayed developmental milestones. He was diagnosed to have mild hearing loss.Extraoral examination revealed facial asymmetry with micrognathic mandible and prominent symphysis, increased anteroposterior diameter of skull low hairline, and low set ear along with limb abnormalities.The mouth was fish like with long philtrum, bushy eye brows with long curled eyelashes.Intraoral examination revealed high arched palate.Hard tissue examination revealed generalized crowding,