hrp0092p1-229 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

"Endocrine Evaluation of 29 Cornelia de Lange Syndrome Patients (CdLS) Patients"

Matamala Angela Marina Ascaso , de Ávila Montoya José Mario Romero , Cereza Maria Teresa Llorente , Lidón Laura Trujillano , Fuentes Feliciano Ramos , Juste Juan Pie , Lozano Gloria Bueno

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...