Spondyloepiphyseal dysplasia tarda: four cases from two families

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients—a brother and a sister and their third cousin—in a family and one patient in another family) with SEDT-PA. All patients had sho...

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Bibliographic Details
Published in:Rheumatology international 2009-04, Vol.29 (6), p.699-702
Main Authors: Bal, Serpil, Kocyigit, Hikmet, Turan, Yasemin, Gurgan, Alev, Bayram, Korhan Baris, Güvenc, Anıl, Kocaaga, Zehra, Dirim, Berna
Format: Article
Language:English
Subjects:
Adult
Arthritis, Juvenile - diagnosis
Arthropathy, Neurogenic - genetics
Case Report
Child
Diagnosis, Differential
Family
Female
Genes, Recessive
Hand - diagnostic imaging
Hand - physiopathology
Humans
Male
Medicine
Medicine & Public Health
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Pain Measurement
Physical therapy
Radiography
Range of Motion, Articular
Rheumatology
Siblings
Young Adult
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Summary:Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients—a brother and a sister and their third cousin—in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet. Their radiographs revealed typical changes for SEDT-PA including platyspondyly, severe osteopenia and dysplastic bone changes. Physical therapy and exercises were performed to all patients in order to decrease in pain and increase or at least maintain joint motion and mobility. Symptomatic relief was achieved in all patients for about a couple of months. The major clinical importance of this rather rare disorder is its similarity to juvenile idiopathic arthritis which has rather different treatment protocol.
ISSN:0172-8172
1437-160X
DOI:10.1007/s00296-008-0746-x