Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p92 | (1) | ICCBH2019

A little girl with bowing of legs, a short mother and a waddling sister: Metaphyseal Chondrodysplasia, Schmid type

Nimali Seneviratne Sumudu , Wanniarachchige Harshika , Thilakarathna Kanishka , Samarasinghe Nayana

Background: Metaphyseal Chondrodysplasia, Schmid Type(MDS) is a rare autosomal dominant disorder characterized by short stature, coxa vara and bow legs, with radiographs showing diffuse metaphyseal flaring and irregularity of tubular bones. We report a family with MDS from Sri Lanka, where diagnosis was made on family history and typical radiographic features.Presenting problem: A 5-year-old girl presented with asymmetrical bowing of lower limbs since 2&...