title: Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height.
abstract: Metaphyseal chondrodysplasias (MCD) are skeletal disorders characterized by metaphyseal irregularities and, usually, by short stature. In MCD, wide heterogeneity exists with regard to clinical and radiological changes. We report on a patient with clinical and radiological findings of MCD who had coxa valga and normal height with metaphyseal involvement of the long bones. The short radii and ulnae showed a very severe change in their distal metaphyses, leading to mesomelic shortening confined to the upper limbs. Hematological, ophthalmological, and hearing examinations were normal. This type of MCD appears to represent a yet undescribed syndrome.
authors.affiliation: Department of Orthopedics and Traumatology, Santa Corona Hospital, Pietra Ligure, Savona, Italy. ped-sv@as12.sv.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Camera
authors.forename: Gianni
authors.initials: G
authors.lastname: Camera
mesh_terms: D001827:Body Height; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011884:Radius / Q000002:abnormalities*; D014457:Ulna / Q000002:abnormalities*