We describe a syndrome combining abnormalities of the pelvis, knee and foot in three related patients with a familial history of small dislocated patellae. The clinical and radiological appearance of the patella and pelvis is consistent with the 'small-patella' syndrome, a rare autosomal dominant disorder. There were also previously unreported deformities affecting the feet. The 'small-patella' syndrome, first described by Scott and Taor in 1979, is characterised by patellar aplasia or hypoplasia and abnormalities of the pelvic girdle. We describe a family in which the classic anomalies of this syndrome are associated with minor morphological variations of the hindfoot. We present the radiological features and discuss the aetiology.
CASE REPORTSCase 1 (III3, Fig. 1). A 68-year-old woman was admitted with bilateral chronic knee and ankle pain. She was obese and had a personal and family history of recurrent dislocation of small patellae (Fig. 1).Physical examination revealed small, laterally placed patellae, flat feet, and limited subtalar motion. The other peripheral joints were normal and there was no nail dystrophy or leg shortening. Radiographs (Fig. 2) showed multiple skeletal abnormalities, including small dislocated patellae, bilateral defective formation of the ischiopubic junction, hypoplasia of the lesser trochanters, infra-acetabular notches, ball-and-socket ankle joints, secondary radiological signs of bilateral talocalcaneal coalition with narrowing of the posterior talocalcaneal joint space and a talar beak, hypertrophy of the neck of the talus and broadbased plantar calcaneal exostoses.Three-dimensional CT of the pelvis showed thin ischiopubic junctions and emphasised the infra-acetabular notches (Fig. 3a). Coronal CT of the right hindfoot (Fig. 3b) identified talocalcaneal coalition at the level of the sustentaculum tali. No other skeletal abnormalities were seen. Case 2 (IV1, Fig. 1). This 49-year-old woman, the daughter of the patient in case 1, had small patellae. Radiographs of the pelvis, knees and hindfeet showed small patellae, hypoplasia of the ischiopubic junction, hypertrophy of the neck Fig. 1 Genealogical table of the family reported.