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Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia
Author(s) -
Vatanavicharn Nithiwat,
Lachman Ralph S.,
Rimoin David L.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32313
Subject(s) - ossification center , radiography , patella , dysplasia , medicine , ossification , cartilage oligomeric matrix protein , anatomy , osteoarthritis , pathology , radiology , alternative medicine
A multilayered patella is a characteristic radiographic finding of recessive multiple epiphyseal dysplasia (rMED) caused by DTDST mutations. However it has been recently reported in a dominant MED case with a COL9A2 mutation. We report on a new radiographic patellar finding in a patient with pseudoachondroplasia and a heterozygous COMP mutation. It is similar to the radiographic appearance of fusing multilayered patellae in rMED cases. This led us to search the International Skeletal Dysplasia Registry for similar abnormalities. We did not observe this finding in other skeletal dysplasias or other pseudoachondroplasia cases. However we found an accessory ossification center of the patella in another pseudoachondroplasia case. Thus, we hypothesize that variable defects of cartilage extracellular matrix can result in similar abnormal patellar ossifications, and emphasize the importance of a lateral knee radiograph in patients with the pseudoachondroplasia‐MED bone dysplasia group of disorders. © 2008 Wiley‐Liss, Inc.