Aper syndrome in a child: A case from practice

Congenital malformations constitute one of the most pressing medical and social problems in the world. This is due to the high incidence of pathology and the severity of the formed anatomical and functional disorders. Apert syndrome is a rare malformation characterized by syndromic craniosynostosis, which is a group of disorders in which various malformations and ossification features of the bones of the facial and cerebral skull are combined with abnormalities of other organs and systems. The cause of the gene mutation has not yet been determined. The disease occurs as a result of an autosomal dominant mutation in a gene that is localized on the long arm of chromosome 10, at the 10q26 locus. Aper syndrome is caused by one of two missense mutations of the FGFR2 gene involving two adjacent amino acids: S252W and P253R. Severe syndactyly and mental retardation are expressed in patients with the P253R mutation. On the contrary, cleft palate is more common in carriers with the S252W mutation. Aper syndrome is characterized by a clinical triad: brachycephalic skull; hypoplasia of the middle part of the face and limb abnormalities (syndactyly of the hands and feet). The main diagnostic signs of the syndrome – acrocephaly and syndactyly of the fingers and feet – are noted in 100% of cases. Often, patients are found to have malformations of the brain (dystopia of the tonsils of the cerebellum, stenosis of the jugular foramen, arachnoid cysts in the posterior cranial fossa, malformation of the corpus callosum and/or limbic structures). The brain is enlarged vertically and reduced in anteroposterior dimensions. All children have an oblique location of the temporal bones. The article presents literature data on the clinic, diagnosis and treatment of Aper syndrome, as well as clinical observation of this syndrome.

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