[Metaphyseal chondrodysplasia as differential diagnosis to rickets]

Abstract

Metaphyseal chondrodysplasias are a heterogeneous group of rare disorders, with flaring and irregularity of various metaphyses. The radiographic changes are similar to rickets, but calcium and phosphorus metabolism is normal. Other types are Schmid, Spahr, McKusick, Schwachman and Jansen, which can be separated by clinical, radiographic, genetic and biochemical criteria. We present a patient with metaphyseal chondrodysplasia, Schmid type, whose bone disorder was thought to be rickets and was treated as such.