Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Abstract excerpt

Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange syndrome, is a well-described multiple malformation syndrome typically involving proportionate small stature, developmental delay, specific facial features, major malformations (particularly the cardiac, gastrointestinal and musculoskeletal systems), and behavioral abnormalities. There is a broad spectrum of clinical involvement, with increasing...

Topics

• Age Factors
• Brain
• De Lange Syndrome
• Genetic Counseling
• Humans
• Phenotype