Autor: Cristina Dragomir Iuliana Jucuți Lorica Gabriela Gheorghiu Silvia Popescu Axinia Corcheş Victor Andraşoni
The Cornelia de Lange Syndrome is a rare genetic disease characterized plurimalformative syndrome, with the incidence 1/10000-30000 (1/10000-50000) of live births.
The case study was performed on a patient in aged 15.4 years from urban areas, who are hospitalized in Clinic of Neurology and Psychiatry for Childrens and Adolescents for an episode of loss of consciousness with faintness aspect, headache and thoraco-lumbar pain, being the first hospitalization a neuropsychiatric ward.
The mild Cornelia de Lange Syndrome diagnosis was established based on clinical data (particular phenotype) and genetic. The patient has an IQ = 120 (Raven test).
The prognosis and the evolution of the Cornelia de Lange syndrome in this patient are favorable.
In the easily CdLS with a milder phenotype, which retains many characteristic facial features, was described consistently and is typical of individuals with a pathogenic variant in SMC3 heterozygous or homozygous RAD21 or a pathogenic variant in HDAC8 or SMC1.