ABSTRACT
Background: Microcephaly-capillary malformation [MIC-CAP] syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia
Patient: We describe a 6-month-old girl with severe congenital microcephaly, intractable epilepsy [infantile spasms], multiple cutaneous capillary malformations and facial abnormalities. Genetic studies revealed the presence of new STAMPB gene mutations in the compound heterozygous state: c.273delA and the intron replacement c.204-5 C > G
Conclusions: This report presents a case of MIC-CAP syndrome with earlier unreported new mutations of the STAMPB gene