Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

We report on our experience on 73 Italian CdLS patients (40 males and 33 females) with and age range from 15 to 49 years. Our results confirm the previous study indicating that gastroesophageal reflux disease (GERD) is the main medical problem of these patients in childhood and young‐adult age. Other medical features that should be considered in the medical follow‐up are tendency to overweight/frank obesity, constipation, discrepancy of limbs’ length, epilepsy, hearing, and visual problems. Behavioral problems are particularly frequent as well. For this reason, every source of hidden pain should be actively searched for in evaluating a patient showing such a disorder. Finally, recommendations for medical follow‐up in adult age are discussed. © 2016 Wiley Periodicals, Inc.
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Introduction Source Type: research