Çağatay Nusret DAL
Small Patella Syndrome has an incidence of less than 1/1000000 and is a rare disease with autosomal dominant genetic inheritance features. It is also called Ischiopatellar Dysplasia, Coxopodopatellar Syndrome and Scott-Taor Syndrome. Occurring as a result of mutations of the TBX4 gene, the most pronounced features of the disease are patella aplasia/hypoplasia, ischiopubic ossification anomaly and foot anomaly with opening between the 1st and 2nd toes wider than normal, especially. In some cases, it may be accompanied by facial bone hypoplasia and muscle hypotrophy. In this case report we present two sisters with isolated bone anomalies, related joint movement limitations and contracture and resulting walking difficulties defined as small patella syndrome, with one having relatively more severe complaints. This patient, with relatively more severe complaints, had a treatment program arranged with stretching of the hip flexors and left hamstring muscle, especially; hip flexor stretching exercises and strengthening of abdominal muscles to correct lumbar hyperlordosis; strengthening of the tibialis posterior muscle, the medial longitudinal arch dynamic stabilizer, for pes planus deformity; plantar fascia stretching exercises with balance coordination and posture exercises as an outpatient physiotherapy program and additionally 15 sessions of physical therapy program for the knee joints. At the end of treatment, the patient’s left knee extension limitation reduced by 5°. Flexion contracture of both hip joints and lumbar hyperlordosis had partially reduced. Manual muscle test identified similar loss of strength in the knee extensors. Medial arch-support silicon soles were recommended for continuing pes planus deformity. Patient permission was granted from both patients for this case report.

Anahtar Kelimeler: Coxopodopatellar Syndrome, Scott-Taor Syndrome, Small Patella Syndrome