Letters to the editor
Molecular diagnosis is important to confirm suspected pseudoachondroplasia
| The first 150 words of the full text of this article appear below. |
EDITOR
Pseudoachondroplasia (PSACH) is an
autosomal dominant chondrodysplasia. In the majority of clinically
defined cases, mutations have been identified in the gene encoding
cartilage oligomeric matrix protein
(COMP).1 Mutations in the
COMP gene have also been identified in some
forms of multiple epiphyseal dysplasia (MED), a related skeletal
dysplasia.1 All of the mutations associated with PSACH and
MED have been found in exons encoding the type III repeat region or
C-terminal domain of COMP.
Clinically, PSACH is characterised by short limbed dwarfism, which first becomes apparent in infancy, short fingers, ligamentous laxity, scoliosis, and early onset osteoarthritis (OA).2 Radiographic features include small irregular epiphyses with delayed ossification, flared metaphyses, anterior beaking of the vertebral bodies, and delayed maturation of the triradiate cartilage and acetabulum.3
We report three patients who had previously been given erroneous
diagnoses, in whom mutations in exon 13 of the
COMP gene have been
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