Cilliers Beighton syndrome
Overview
A very rare inherited disease characterized by premature degeneration of the hip joints
Symptoms
* Hip pain * Progressive crippling * Flattened femoral capital epiphyses * Irregular femoral capital epiphyses
Causes
* Septic arthitis –Surgical emergency due to irreversible chondrolysis and epiphyseal injury –Acute process leading to decreased hip range of motion, severe pain with passive range of motion * Slipped capital femoral epiphysis (SCFE) –Typically in obese, adolescent males with aching groin, hip, or knee –May have externally rotated hip position and gait * Legg-Calvé-Perthes –Presents at younger age than SCFE (3–8 years old) –Five times greater incidence in boys than girls –Pain in hip or knee, decreased active and passive ROM, and Trendelenburg gait * Developmental dysplasia of the hip (DDH) –Early diagnosis with newborn exam finding of easily dislocatable hip –Older infants have limited hip abduction * Osteomyelitis –Vague symptoms may make this a difficult diagnosis –Limp, fever, pain in the proximal thigh or pseudoparalysis of an extremity in an infant may be the only sign * Fracture –Consider accidental and nonaccidental trauma –Pain, limited ambulation, limited active and passive ROM, or inability to bear weight * Transient monoarticular synovitis –Often preceded 1–2 weeks by upper respiratory infection –Antalgic gait, moderate pain in hip, groin, or knee, and uncomfortable range of motion * Neoplasia –Although primary bone disorders do not generally present with hip pain, other malignancies such as acute leukemia may initially present with bone or joint pain * Vertebral osteomyelitis/diskitis –Referred pain from lumbrosacral region may present as hip pain
Treatment
* Septic arthritis, femoral neck fracture, and irreducible traumatic hip dislocation require immediate surgical intervention * Infectious disease consult for septic joint * Once surgical emergencies are ruled out, keeping the patient non-weight bearing on the affected extremity will allow continued investigation without further injury * SCFE: Prevent further slippage by percutaneous pinning or screw fixation * Legg-Calvé-Perthes: Treatment goals include restoring ROM, improving symptoms, and containing the femoral epiphysis during reossification phase; accomplished by limiting activity, traction, Petrie casting, and surgical procedures for containment * DDH: Pavlik harness, closed reduction and casting, open reduction for irreducible hip dislocation, or femoral and/or pelvic osteotomy depending on status and age of developing hip
Resources
Cilliers-Beighton syndrome: Another name for Hip dysplasia, Beukes type