Abstract
IntoductionAdvanced 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 presentationWe 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.ConclusionThe 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.
Highlights
Desbuquois dysplasia is a rare condition of autosomal recessive inheritance, characterised by marked short stature of prenatal onset, specific facial features, and joint laxity
The major skeletal changes in our patient include advanced carpal ossification, monkey wrench appearance of the proximal femora associated with significant vertebral changes
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
Summary
Distinctive radiographic futures in our patient include precocious carpal bone ossification associated with supernumerary ossicles at the proximal portion of the first metacarpal and another ossicle at the proximal portion of the middle phalanx of the second metacarpal and Delta likemiddle phalanx of the fifth finger. The monkey wrench appearance of the proximal femur, a horizontally dysplastic acetabulae associated with significant spine changes are features consistent with Desbuquois dysplasia. We suggest that our patient might manifest either a mild variant of Desbuquois dysplasia or a Desbuquois-like disorder. 3. Faivre L, Cormier Daire V, Eliott AM, Field F, Munnich A, et al.: Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. 4. Le Merrer M, Young ID, Stanescu V, Maroteaux P: Desbuquois syndrome. 6. Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K: A mild variant of Desbuquois dysplasia. 7. Al Kaissi A, Nessib N, Ghachem MB, Hammou A, Guiddana N, Kozlowski K: A novel syndrome resembling Desbuquois dysplasia.
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