Pediatria. Journal named after G.N. Speransky | 2021
CLINICAL CASE OF CONGENITAL FASCIAL DYSTROPHY SYNDROME IN A 3-YEAR-OLD CHILD: THE FIRST DESCRIPTION IN RUSSIA
Abstract
The article highlights the problem of hereditary diseases of the connective tissue, namely fibrillinopathies. Their rarest manifestations are considered – stiff skin syndrome – Stiffsyndrome and congenital fascial dystrophy. The first clinical case of this pathology in 3-year-old boy in Russia is described.