title: Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.
abstract: 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.
authors.affiliation: Departamento de Genética Médica, Hospital General de Tijuana ISESALUD, Baja California, Mexico. Electronic address: vm_salinas7@hotmail.com.
authors.forename: Victor M
authors.initials: VM
authors.lastname: Salinas-Torres
authors.affiliation: Departamento de Estadística, Hospital General de Tijuana ISESALUD, Baja California, Mexico.
authors.forename: Rafael A
authors.initials: RA
authors.lastname: Salinas-Torres
mesh_terms: D001859:Bone Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging; D059327:Brachydactyly / Q000000981:diagnostic imaging / Q000209:etiology; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D018210:Chondromatosis / Q000150:complications* / Q000000981:diagnostic imaging; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D000069337:Fused Kidney / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D009479:Neuropeptides; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000209:etiology; D014057:Tomography, X-Ray Computed
chemical_list: D009479:Neuropeptides; C045659:small cardioactive peptide A
keywords: Branchial defects; Branchiootorenal syndrome; Hearing loss; Metachondromatosis; Musculoskeletal anomalies; Otofaciocervical syndrome