Cornelia de Lange syndrome: a case study

Abstract

Cornelia de Lange syndrome (CdLS) is a rare dysmorphogenic disorder characterized by growth retardation, severe cognitive limitations, distinctive facial features, and limb reduction anomalies recognizable at birth. Currently, no single criterion is diagnostic for CdLS, and misdiagnosis is not uncommon. Long-term management of the infant with CdLS requires a coordinated effort among many different specialists. This article presents a general overview of Cornelia de Lange syndrome. It concludes with a case study illustrating the many problems infants with CdLS may have and the great amount of teaching and support that is needed by families affected by CdLS.