Clinical Characteristics in Cornelia De Lange Syndrome of the Firsttype on Theexample of a Clinical Case

Abstract

— Relevance: Cornelia de Lange syndrome is a rare congenital disorder associated with orphan diseases and is characterized by multiple stigmas of dysembryogenesis at birth. This syndrome occurs in newborns with a frequency of 1: 30,000 to 1: 10,000; there are no gender differences in the frequency of occurrence. Cornelia de Lange syndrome is a dominantly inherited disease, but most cases are sporadic de novo, therefore, mainly children with Cornelia de Lange syndrome are born from genetically healthy parents. Purpose: Using the example of a clinical case, to demonstrate the characteristic features of the clinical picture, namely the phenotype and deviations of the neurological status in Cornelia de Lange syndrome. Materials: Girl M., born in 2018, at the age of 1 year 11 months, together with her mother, was admitted to the Center for Pediatric Neurology and Medical Rehabilitation No. 2 in Tver, Russia. The girl had the following complaints (according to the mother): the child does not walk independently, stands with legs apart, and does not speak. She has obsessive movements ("crossed out" hand movement, waves her arms, puts his right hand behind the body, shakes objects in the mouth area), lags behind in development, does not differentiate significant adults, does not speak, there is no pointing gesture. Inpatient examination and treatment was carried out at the Center for Pediatric Neurology and Medical Rehabilitation. Results: Based on the examinations, the following diagnosis was established: Cornellia de Lange syndrome, type 1. Delayed physical, static-motor and mental development. Short stature. Congenital kidney anomaly: horseshoe kidney. Sensorineural hearing loss I-II degree The priority areas in this case are: improving the patient's quality of life, stimulating the development of the mental and motor spheres, socialization with other children. Conclusion: This clinical case demonstrates the need for early diagnosis of genetic disorders in order to build correct social and medical rehabilitation.