Cornelia de Lange syndrome--photo essay

Abstract

Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by developmental delay, retardation of growth, limb reduction abnormalities and dysmorphic facial features. With the exception of one case with a de novo translocation (Ireland et al., 1991) there are no consistent chromosomal abnormalities or biochemical markers. Diagnosis is therefore dependent on the recognition of the distinctive facial features. In this photo essay we focus on those features which are most specific to the syndrome and highlight possible diagnostic pitfalls.