Abstract
Jacobsen syndrome (JS) is a rare chromosomal anomaly caused by a deletion of the distal part of the long arm of chromosome 11, characterized by a variable phenotype, including delayed physical development, mental retardation, autism, facial skeletal dysmorphia (skull deformity, hypertelorism, ptosis, coloboma, anti-mongoloid eye incision, epicanthus, broad nasal bridge, short nose, v-shaped mouth, small ears, low-set ears that are rotated backward), multiple visceral malformations (heart, kidney, gastrointestinal tract, genitals), and of CNS and skeletal system, thrombocytopenia/thrombocytopathy or pancytopenia and combined immunodeficiency. The article presents a clinical case of a patient with JS with characteristic facial anomalies, neurological manifestations and immunological disorders, including humoral and cellular immunodeficiency.
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