Wolf–Hirshhorn syndrome

Abstract

Wolff–Hirschhorn syndrome is a rare genetic disease associated with a chromosomal aberration of chromosome 4. A feature of the disease is the characteristic appearance of the face, anomalies in the development of internal organs and the skeleton, disorders in the motor, cognitive and psychospeech sphere, convulsive syndrome. Clinical observation presents a description of a 5-year-old 11-month-old child with a rare hereditary pathology — Wolff–Hirschhorn syndrome, who was treated in the neurological department of the Children’s Center for Psychoneurology and Epileptology of the Republican Children’s Clinical Hospital in Ufa. The disease was manifested by epilepsy, psychomotor retardation, and alalia. Multiple stigmas of dysembryogenesis were determined.