Relevance. Acrocephalosyndactyly – a group of syndromes of multiple congenital malformations (MCM), the main components of which are acrocephaly and syndactyly. The most common nosological form of this group is Apert syndrome. Given the manifestation of the syndrome at birth and severe congenital defects of the musculoskeletal system, brain, cardiovascular system, and others, this disease is of practical interest to doctors of many specialties.
Objective: to generalize modern ideas about the pathogenetic mechanisms, diagnostic, treatment, and prevention of Apert syndrome.
Materials and methods. Clinical case of Apert syndrome. Clinical and genealogical, biochemical, cytogenetic, instrumental methods of examination.
Results. The paper presents a clinical case of Aper syndrome in a newborn girl with multiple malformations. Modern information on pathogenetic mechanisms, diagnostic, treatment, and prevention of Aper's syndrome is provided.
Conclusions. Apert syndrome belongs to a group of syndromes of multiple congenital malformations that require the attention of doctors of various specialties. The main clinical manifestations of the disease are quite specific which allows establishing the diagnosis at birth. At the core of Aper's syndrome are mutations in the FGFR2 gene. There is a prenatal diagnostic of the disease. Reconstructive surgical methods of treatment have been developed. Timely comprehensive treatment and rehabilitation allow such patients to adapt to society.
Congenital malformations of the fetus: Clinical case from practice