Detaillierte Beitrags-Information
| Beitragstitel | Small Patella Syndrome (SPS) |
|---|---|
| Beitragscode | P067 |
| Autoren | |
| Präsentationsform | Poster |
| Themengebiete |
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| Abstract |
Introduction: Small Patella Syndrome (SPS) is an autosomal-dominant mutation of the TBX4 Gen 17Q23. Prevalence is >1/1.000.000 with 50 cases been described in literature. Clinically patients present with aplasia or hypoplasia of the patella with additional irregularities of the pelvis (hypoplasia or agenesis of the ischium, irregular ischial ossification at) and/or feet (flat-foot or club-foot deformity, brachydactyly). Cranio-facial anomalies have been described. SPS is also known as ischiopatella dysplasia, ischio-pubic patella syndrome or Scott-Taor Syndrome, first described in 1970 by Goeminne and Dujardin. Methods:We report on a 47-year female working as a farmer, who presented herself in our Orthopaedic Referral Clinic, currently suffering from recurrent knee pain and lacking strength in her thighs while working. Since childhood she is aware of "not having knee caps and parts of the pelvic bone". Clinical examination shows extension limitation (Ex/Flex 0-30-140° -opposite side Ex/Flex 10-0-140°) in active movement, with passive movement bilaterally equal, proper ligament stability, no joint effusion, no positive meniscus signs. Knee a.p./lat + Patella axial bil.: Aplasia of both Patella, slight OA with minimal varus bil. Pelvis AP + Hips axial bil: Agenesis of both inferior rami pubis, no osteoarthritis of hip joint, Degenerative changes in pubic symphysis and left SI-Joint MRI LFT Knee: Aplasia of Patella, Hypertrophy of the synovium in the anteromedial, slight joint effusion and baker cyst, minor osteochondral lesion IV° anteromedial on femoral condyle with bone bruise MRI RT Knee Aplasia of Patella., Hx of MPFL rupture, Chondromalacia of medial compartment. Results: The patient presents with an early onset of osteoarthritis. The muscular weakness seems to be explained by changed biomechanics of the force vector when activating the quadriceps. In case of continuous knee pain we discussed steroid infiltration and recommend adjustment of the work environment. Conclusion: SPS is a rare condition in which aplasia of the patella can be combined with additional hypoplasia or aplasia of pelvis and feet. In patients with SPS symptoms can vary from no symptoms, to recurrent dislocation of the hypoplastic patella, the inability to run fast or ride a bike to early osteoarthritis. Recent studies indicate a possible association between the TBX4 gene mutation and pulmonary arterial hypertension in children, suggesting screening in young patients with SPS. |