Diastrophic Dysplasia : A Case Report

Introduction:
Diastrophic is a Greek word meaning twisted or
tortuous. The term was first used in 1960 for a
dysplastic condition of bones.1 Skeletal dysplasias
are a heterogeneous group of conditions associated
with abnormalities of skeleton, including its shape,
size and density, manifest in limbs, chest, or skull.2
Here, disorders of cartilage and bone are generalized.3
The name ‘diastrophic dysplasia’ (DTD) was chosen
to indicate “twisted” appearance of spine and limbs in
severely affected individual. This is an autosomal
recessive hereditary disorder with a gene in
chromosome 5q which is known as diastrophic
dysplasia sulfate transporter (DTDST) gene.4 The
gene encodes a transmembrane protein that
transports sulfate into chondrocytes to maintain
adequate sulfation of proteoglycans. Diastrophic
dysplasia results from mutations in this gene leading
to inherited chondrodysplasias hence impairment of
skeletal development.5

 

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