The article presents the observation of a rare hereditary disease: Adams–Oliver syndrome. In a newborn girl in the postnatal period, a lesion of the distal extremities was revealed in the form of syndactyly of the proximal phalanges of 4–5 and 2–3 fingers, hypoplasia of the nail phalanges of 2–5 fingers of the left foot, fusion of the proximal phalanges and the absence of middle and nail phalanges of 2–3 fingers of the right foot, hypoplasia of the terminal phalanx and the absence of the nail plate of the 2nd finger of the left hand. In addition to malformations of the extremities, anomalies in the development of the skin on the scalp in the form of an area of aplasia and outgrowths, represented by sweat gland hyperplasia with a fibroepithelial outgrowth, were noted. Cardiac pathology was manifested by a heart rhythm disturbance of the type of sinus bradyarrhythmia. Adams–Oliver syndrome is a complex disease with phenotypic variability, which causes difficulties in clinical diagnosis.
Breath-holding spells (BHS) affect 0.1 to 4.6% of children. ARSs are most often observed at the age of 6–18 months, and are associated with autonomic nervous system dysregulation, delayed myelination of the brain stem, iron deficiency anemia. The article presents information from domestic and foreign literature on the features of pathogenesis, clinical manifestations, diagnosis, assessment and treatment of children with BHS. A search was performed in MEDLINE, PubMed, e-library using the keywords: «affective-respiratory seizures», «breath-holding seizure in children». The search strategy included meta-analyzes, randomized controlled trials and clinical trials, observational studies, and reviews.
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