Quirónsalud Valencia, in collaboration with the University Hospital La Fe, celebrates this Saturday, February 24, the 3rd Conference on Advances and Treatments of Bone Dysplasias and Musculoskeletal Abnormalities in Childhood. The event, which will take place in the College of Physicians, will bring together the leading national experts in the treatment and diagnosis of these childhood pathologies.

Bone dysplasias are genetic diseases that preferentially affect the bones. As explained by Dr. Antonio Pérez-Aytes, specialist in genetics and rare diseases of the Pediatric Service of the Hospital Quirónsalud Valencia, "these pathologies are characterized by the interference they produce in bone growth and whose consequences translate into a very low size, deformities bony, difficulties to walk, scoliosis, early degeneration of the joints, in short, various problems that significantly alter the health and daily life of the affected person ".

Of all the typologies, achondroplasia, commonly called dwarfism, is the most common and affects 1 in 5,000 babies. "If we add this to the rest of dysplasias, of which there are more than 200 described, we can talk about 2 out of every 5,000 born," points out Dr. Pérez-Aytes. All these diseases have a hereditary origin and thanks to the advances of the last decade in genetic diagnostic techniques, nowadays in all bone dysplasias a genetic diagnosis can be reached with the exact characterization of the responsible mutation.

The most usual techniques for its treatment are usually traumatological surgeries. "They consist of operations of bone lengthening to improve the size, interventions on the spine to correct deviations, actions on the long bones of the body to correct the deformity and other procedures. Recently a very interesting research area has been opened with medical treatments with drugs that are able to act on the bones, which would save many surgeries. This fact has aroused many expectations, in the professionals and in the families of those affected, "says the specialist.

Sleep problems in affected children

The most frequent disorders of children affected by this disease are sleep problems, mainly obstructive sleep apnea, caused by the deformity of the craniofacial bones. "This can lead them to develop a low level of oxygen in the body, poor sleep quality with subsequent drowsiness during the day, and even develop heart failure problems due to chronic hypo-oxygenation," explains Dr. Gonzalo Pin, head of the Health Service. Pediatrics of Quirónsalud Valencia.

The specialists recommend the parents of the affected children to resort to multidisciplinary units. "Multidisciplinary management, with a well coordinated team, with good communication among specialists, is basic and fundamental for treating children with bone dysplasias, because it allows to be always up-to-date on the latest advances in diagnosis and treatment, which makes the quality of care is optimal ", concludes the specialist in genetics and rare diseases.

Labels: Quirónsalud Valencia; Pediatricians; Bone dysplasias: dwarfism; bone malformations