Trismus‐pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report

Abstract

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.

Isolated Congenital Camptodactyly and Temporomandibular Joint Articular Disc Displacement

“…Furthermore, our patient denied any known family history of similar manifestations. A review of related literature on patients presenting with both camptodactyly and TMD over the past four decades revealed that these manifestations occurred in the context of the auriculo-condylar syndrome (ACS) and trismuspseudocamptodactyly syndrome (TPS) [5][6][7][9][10][11][12][13][14].…”

“…TPS (Hecht-Beals syndrome or Dutch-Kentucky syndrome) is caused by a mutation in the myosin heavy chain 8 (MYH8) gene affecting early skeletal development. All reviewed cases documented camptodactyly and trismus with or without coronoid hyperplasia [ 5 , 14 ]. In contrast, we identified only one report of a patient (with significant family history) affected with ACS who had concurrent camptodactyly and TMD.…”

“…Camptodactyly, a congenital anomaly of the hand affecting less than 1% of the population, is characterized by flexion of the proximal interphalangeal (PIP) joint resulting in finger deformity, most commonly in the fifth digit [4]. Trismus and TMDs as components of rare familial and nonfamilial camptodactyly syndromes have been recognized, suggesting a mutual underlying factor altering the developmental biology of the masticatory apparatus in addition to the PIP joint of the fingers [5][6][7][8].…”