small-cardioactive-peptide-a and Scoliosis

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS.

Topics: Bone Neoplasms; Brachydactyly; Branchio-Oto-Renal Syndrome; Child, Preschool; Chondromatosis; Exostoses, Multiple Hereditary; Female; Fused Kidney; Humans; Neuropeptides; Radiography; Scoliosis; Tomography, X-Ray Computed