Bequin-Iger Syndrome

Bequin-Iger (Bickivna) syndrome

Bequin-Iger (Bickvna) or osteoclastic macrocrania syndrome is a genetic disease caused by a mutation in the SOST gene. This disease causes abnormal growth of the skull and an increase in head size, as well as other skeletal abnormalities. Because of this condition, autism may not be recognized in children. Treatment requires skeletal surgery.

Bequin-Iger syndrome is a rare hereditary disease characterized by impaired formation of the skeleton and cranium. Another common name for the disease is osteoclasia macrocranium. A peculiarity of the baby’s development is the accelerated process of growth of the skull bones due to the lengthening of the bones of the spinal column. There is also a significant increase in the size of the child's head. If the abnormal growth of the skull is not stopped in time, the result will be microcephaly, which is considered one of the most severe complications of the syndrome. In most cases, signs of a defect develop in the baby due to too slow skeletal growth. In this case, the formation of cartilage is disrupted, and signs of early ossification appear.

The etiology and pathogenesis of the disease have not been fully studied. There is a hypothesis that heredity becomes the cause of the disease when the cells’ perception of special hormones is disrupted. But over time it was found out how it works. Affected families have a special type of gene that increases the level of the hormone prolactin. It is because of its excess amount that cell maturation is disrupted, which causes failures at the stage of bone formation.

The disease develops from birth: the bones of the skull grow unevenly, forming gross deformations of the skull. Outwardly, the baby seems clumsy, his body is poorly developed. The protrusion of the upper part of the bony plates and brow ridges becomes noticeable very quickly. At first, the syndrome is noticeable only when examined by a doctor, but with age, the outward appearance of the disease becomes more pronounced. A sick child constantly experiences paralysis of the facial muscles; they look inverted. As the disease grows, other signs gradually appear, including asymmetry of the limbs, their irregular shape, cracks in the bones, and the inability to bring the hands and fingers to the head. Deformations of the cranial bones are clearly visible, and bleeding and hemorrhage often occur. Coordination of movements is often impaired. The older the child