Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC.

Trismus‐pseudocamptodactyly syndrome (TPS) (OMIM#158300), also known as Hecht syndrome, is a rare autosomal dominant distal arthrogryposis. Bilateral hyperplasia of the coronoid processes has been reported to cause trismus. In this study, we report a case of TPS definitively diagnosed on the basis of clinical signs in a patient who had bilateral hypoplastic mandibular condyles and shallow mandibular fossa; TPS in such patients have never been reported in the literature. On the basis of the present case, we propose that a hypoplastic mandibular condyle and shallow mandibular fossa are also clinical features of TPS.

Anomalous coronary arteries are considered to be benign, however coronary arteries originating from the opposite sinus are considered to be potentially fatal. Especially during exercise, compression of the coronary artery between the aorta and the pulmonary artery may result in myocardial ischemia and in some cases, death. We report an incidental finding of an anomalous right coronary artery originating from the left sinus, in a 5-year-old Kawasaki disease patient. Management of asymptomatic and incidentally diagnosed patients with anomalous right coronary artery remain a subject of debate.