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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Vatanavicharn, Nithiwat Lachman, Ralph S. Rimoin, David L. |
| Description | Country affiliation: United States Author Affiliation: Vatanavicharn N ( Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA. nithiwat_v@hotmail.com) |
| Abstract | 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. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 13 |
| Volume Number | 146A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-07-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Achondroplasia Genetics Osteochondrodysplasias Patella Abnormalities Diagnosis Anion Transport Proteins Cartilage Oligomeric Matrix Protein Child Collagen Type Ix Diagnosis, Differential Extracellular Matrix Proteins Female Genes, Dominant Genes, Recessive Glycoproteins Heterozygote Humans Matrilin Proteins Mutation Phenotype Radiography Case Reports Journal Article Research Support, N.i.h., Extramural |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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