Orthopaedic Manifestations of Alagille Syndrome: A Report of Two Cases and an Updated Literature Review

CASE: Case 1 is a 6-month-old female who presented for evaluation of asymptomatic vertebral anomalies in the setting of jaundice and cardiac murmur; she was diagnosed with Alagille syndrome (AGS). Her spine has been monitored clinically. Case 2 is a 10-year-old female who sustained a pathologic femur fracture in the setting of known AGS, requiring operative stabilization and optimization of her bone mineral density. CONCLUSIONS: Pediatric orthopaedists care for children with AGS both in management of congenital musculoskeletal anomalies and in treatment of pathologic fractures. Familiarity with the current AGS literature is necessary for provision of optimal multidisciplinary care.