СИНДРОМ МИКРОЦЕФАЛИИ С КАПИЛЛЯРНЫМИ МАЛЬФОРМАЦИЯМИ

Microcephaly syndrome in combination with capillary malformations (MICCAP) is a recently distinguished syndrome with an autosomal recessive inheritance type. It is now known about 12 syndrome cases published in literature. The main manifestations of the syndrome are congenital microcephaly, intractable epilepsy, vascular patches on the skin, characteristic facial abnormalities. Patients have STAMBP gene mutations that are responsible for disease development. The article describes the first case of MICCAP in Russia. The 6 months old girl had all previously described syndrome features and previously undescribed STAMBP gene mutations.