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...

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Bibliographic Details
Published inInternational journal of pediatric otorhinolaryngology Vol. 85; pp. 19 - 21
Main Authors Salinas-Torres, Victor M, Salinas-Torres, Rafael A
Format Journal Article
LanguageEnglish
Published Ireland Elsevier B.V 01.06.2016
Subjects
Bone Neoplasms - complications
Bone Neoplasms - diagnostic imaging
Brachydactyly - diagnostic imaging
Brachydactyly - etiology
Branchial defects
Branchio-Oto-Renal Syndrome - complications
Branchio-Oto-Renal Syndrome - diagnostic imaging
Branchiootorenal syndrome
Child, Preschool
Chondromatosis - complications
Chondromatosis - diagnostic imaging
Exostoses, Multiple Hereditary - complications
Exostoses, Multiple Hereditary - diagnostic imaging
Female
Fused Kidney - diagnostic imaging
Fused Kidney - etiology
Hearing loss
Humans
Metachondromatosis
Musculoskeletal anomalies
Neuropeptides
Otofaciocervical syndrome
Otolaryngology
Pediatrics
Radiography
Scoliosis - diagnostic imaging
Scoliosis - etiology
Tomography, X-Ray Computed
Metachondromatosis
Otofaciocervical syndrome
Musculoskeletal anomalies
Branchial defects
Branchiootorenal syndrome
Hearing loss
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Summary: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. Keywords: Branchial defects; Branchiootorenal syndrome; Hearing loss; Metachondromatosis; Musculoskeletal anomalies; Otofaciocervical syndrome
Bibliography:ObjectType-Case Study-2
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ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2016.03.021