Introduction:
[corrected] Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome.
Case presentation:
We report on a 2-year- old boy from Slovakia was born to non-consanguineous parents. Prenatal and postnatal growth parameters were normal. Clubfoot and genu valgum were the most prominent orthopaedic abnormalities. Radiographic documentation showed bone age of 4 years and 8 months associated with the appearance of accessory ossification centers. Monkey wrench appearance of the proximal femora was a characteristic finding associated with significant vertebral changes.
Conclusion:
The major skeletal changes in our patient include advanced carpal ossification, monkey wrench appearance of the proximal femora associated with significant vertebral changes. No joint dislocations, no hitchhiker thumbs and or dysmorphic facial features were present. The normality of his growth, facial features, intelligence, and palate as well as the characteristic radiographic features were to certain extent in favour of a mild form of Desbuquois dysplasia. Additional laboratory findings allowed us to exclude other disorders with abnormal metabolic parameters such as mucopolysaccharoidosis.