CONFERENCE REPORT

Cornelia de Lange Syndrome: Extending the Physical and Psychological Phenotype
Chris Oliver,1* Maria Francesca Bedeschi,2 Natalie Blagowidow,3 Cheri S. Carrico,4 Anna Cereda,5 David R. FitzPatrick,6 Cristina Gervasini,7 Gemma M. Griffith,8 Antonie D. Kline,3 P. Marchisio,2 Joanna Moss,1,9 Feliciano J. Ramos,10 Angelo Selicorni,11 Penny Tunnicliffe,1 Jolanta Wierzba,11 and Raoul C.M. Hennekam12
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School of Psychology, University of Birmingham, Birmingham, UK Department of Maternal and Pediatric Sciences, Milan, Italy Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland Speech-Language-Hearing Clinic, Elmhurst College, Elmhurst, Illinois Department of Pediatrics, …ver más…

Impaired growth, craniofacial and upper limb abnormalities are common in CdLS and numerous physical health problems are reported with a high prevalence of gastrointestinal disorders and feeding disorders. In a clinical cohort of 100 patients with CdLS postnatal growth was below the third centile for 84% of patients and gastroesophageal reflux (GER) was present in 73% (Abstract 14). Abdominal ultrasound has been found to be a useful adjunct to clinical examination for the purpose of diagnosis of renal, urinary, and uterine anomalies (Abstract 3). Kidney malformations are evident in approximately 30% of patients and cardiac malformations (primarily pulmonary stenosis) occur in 35% (Abstracts 13 and 14). A broad array of feeding problems is reported (Abstracts 1 and 10), including a lack of sucking reflex in neonates (56%). Audiological assessment reveals abnormal hearing in 82% of patients with conductive hearing loss being the most commonly reported problem (Abstract 6). A second study revealed 45% of patients to have either sensorineural or conductive hearing loss (Abstract 7) and that these disorders were related to the size of the NIPBL mutation. Additionally, this study reports myopia and ptosis to be associated with truncating NIPBL mutations. Profound to severe intellectual disability is normally evident in CdLS