Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome

The CHARGE syndrome characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genitourinary hypoplasia, and ear anomalies is one of the rare syndromes. Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal structures of the neck and shoulder have been identified in CHARGE syndrome, data on details of muscle anomalies seem to be quite limited in the literature. In this case report, bilateral multiple muscular abnormalities (agenesis of the trapezius, presence of the rhombo-atloid muscle, and presence of the bipartite rhomboid minor with superficial and deep parts) was presented in a fetus cadaver with atypical CHARGE syndrome to attract the attention of clinicians for definitive diagnoses and surgical reconstruction of the shoulders deformity such as scapular winging and Sprengel's deformity. By considering the previous studies, we propose that the absence of the trapezius, as well as the other muscle abnormalities around the neck and shoulder, should be revised as being a component of CHARGE syndrome.