Abstract
The authors try to give a short review of knowledge on Diastrophic dysplasia (DD). Chief clinical manifestation and radiologic features are demostrated on archive pictures from Ambulant Centre for Deffects of Locomtor Apparatus in Prague as well as primary histological and elecrtronmicroscopical invetigations.
DD is a generalized disorder of cartilage tissue distinguished in perinatal period by short limbed dwarfism, clubfeet and abnormal thumbs, deformity of external ears, progressive scoliosis, small femoral head centres, epiphyseal invaginations and joint contractures. Mutations in gene DTDST (more than 30) cause synthesis of insufficiently sulphated proteoglycans in chondrocytes and fibroblasts.
Consequence are generalized mesenchymal disorders that belong to a family of bone dysplasia. It contains two lethal diseases with severe and a mild involvement.
A mild cases are called as a variant of DD or autosomal recessive multiple epiphyseal dysplasia. On a case of DD variant the chief clinical and roentgen manifestation and long term result of the surgery of both hip joints is exposed.
Original finding is molecular genetically proved so pathogenic variant of gene SLC26A2: c.532C>T p. (Arg178Ter) in exon 2 as most likely pathogenic variant c.1343>T p. (Ser448Leu) in exon 3. Our patient is a compound heterozygot of mentioned mutations in gene SLC16A2.
Both established variants are greatly presumable molecular cause of autosomal recessive variant of DD and correlate with phenotype of the proband.