FAMILY CASE OF CONRADI-HÜNERMANN SYNDROME: CLINICAL AND MOLECULAR GENETIC FEATURES

Chondrodysplasia punctata is a clinically and genetically diverse group of diseases characterized by punctate or «stippled» calcification, which is localized in the epiphyses of long tubular bones, carpal bones, tarsus, pelvis, vertebral bodies, less often involving the skull, sternum, ribs, calcaneus bones. This calcification is transient and disappears spontaneously within the first decade of life. Conradi-Hünermann syndrome occurs with a frequency of 1:400,000 girls (lethal for hemizygous males), manifested by characteristic changes in the skeleton, skin and eye. The presented family case of the disease illustrates the familial variability of clinical manifestations, as well as the possibilities of clinical and molecular genetic pre- and postnatal diagnosis of this rare form of skeletal dysplasia