%0 Journal Article
%T Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus
%A Prathima Sreenivasan
%A Faizal C. Peedikayil
%A Sumal V. Raj
%A Manasa Anand Meundi
%J Case Reports in Dentistry
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/187571
%X Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature. 1. Introduction Trismus pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant disorder with sporadic incidence [1]. This condition was first reported by Hecht and Beale in 1969 [2] and was named the trismus pseudocamptodactyly syndrome (TPS). It is a type of Distal Arthrogryposis (arthro means joint; grypos means curved). They are a group of autosomal dominant disorders that mainly involve the distal parts of the limbs and also affect the temporomandibular joint leading to congenital deformities. They are characterized by congenital contracture of two or more different areas without a primary neurological or muscular disease [1, 3]. Ten different arthrogryposes have been described till date [1, 3, 4] (Table 1). Diagnostic criteria have been formulated for the diagnosis of each type of distal arthrogryposis. For the upper limb, major diagnostic criteria include camptodactyly or pseudocamptodactyly (limited passive proximal interphalangeal joint extension with hyperextension of the wrist), hypoplastic and/or absent flexion creases, overriding fingers, and ulnar deviation at the wrist [1, 4]. For the lower limb, major diagnostic criteria are talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. To be considered affected, an individual must exhibit two or more of these major criteria. When a first-degree family member (a parent or a sibling) meets these diagnostic criteria, a person with at least one major diagnostic criterion is considered affected [1, 3, 4]. In the revised and extended classification scheme of distal arthrogryposis, Bamshad et al. classified TPS as distal arthrogryposis type 7 (DA7) [4]. The major diagnostic criteria are trismus and pseudocamptodactyly [3, 4]. The features of distal arthrogryposis type 7 (DA7) are limited excursion of the mandible, shortened muscle tendon units of the hands (consequently, flexion deformity of the fingers that occurs with wrist extension,
%U http://www.hindawi.com/journals/crid/2013/187571/