Methaphyseal dysplasia Schmid (MDS) in a five-years old boy

Abstract

A three years old boy was referred for severe short stature (-4,75 SDS below the mean). He had bowed legs and the gait was waddling. His tubular bones are short with femoral and tibial bowing. The first signs were evident in the second year of live with coxa and genu vara. The growth delay started in early childhood: hi is constantly growing bellow the third percentile. His bone age was two years at the age of five. X-rays revealed moderate coxa vara, femoral bowing with methaphyseal abnormalities of distal and proximal femurs, proximal tibias, and moderate genu vara. Metaphyseal abnormalities of both distal radius, metacarpals and proximal and intermediate phalanges were found. All tubular bones of the hands were short and wide. The spine was normal. The boy’s intelligence is normal. Serum calcium, phosphorus and alkaline phosphatase were uneventful. Besides a significantly shorter leg of the father, no other family member displayed any dysmorphic features. Gene analysis is pending (COL10A1).