Trismus-pseudocamptodactyly syndrome: case report ten years after.
BACKGROUND
In 1969, Hecht and Beals described for the first time a rare dominant autosomal syndrome characterised by reduced mouth opening, pseudocamptodactyly, short stature, and foot deformities. Recent studies have confirmed that TPS is caused by a mutation of MYH8 that is common to another disease called Carney syndrome.


METHODS
The authors describe the long term follow-up of a case presented in 2003, ten years after the first surgical procedure: a 14-year-old girl, affected by this rare syndrome, had underwent an early (at 4 years) surgical treatment of bilateral coronoidotomies to ensure safe airway management to allow subsequent surgical treatment to correct foot deformities. After six years, a complete relapse of the trismus occurred. Three years later, the patient underwent a second surgery of bilateral coronoidotomies to definitely solve trismus. At the 18 months follow-up, the mouth opening was stable.
Gasparini
G
G
Maxillofacial Surgery Unit, Catholic University Medical School, Rome, Italy. giulio.gasparini@rm.unicatt.it
Boniello
R
R
Moro
A
A
Zampino
G
G
Pelo
S
S
D000015:Abnormalities, Multiple / Q000628:therapy; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000628:therapy; D006228:Hand Deformities, Congenital / Q000628:therapy; D006801:Humans; D008022:Ligaments / Q000002:abnormalities* / Q000601:surgery; D008334:Mandible / Q000002:abnormalities* / Q000601:surgery; D009055:Mouth / Q000503:physiopathology*; D009468:Neuromuscular Diseases / Q000151:congenital / Q000628:therapy*; D013577:Syndrome; D016896:Treatment Outcome; D014313:Trismus / Q000628:therapy*