Anaesthetic implications of the trismus pseudocamptodactyly (Dutch-Kentucky or Hecht Beals) syndrome.
The trismus pseudocamptodactyly syndrome is a relatively rare, autosomal dominant condition first described in 1969. Affected patients classically present with two main features: limited excursion of the mandible and flexion deformity of the fingers that occurs with wrist extension (pseudocamptodactyly). Foot deformities and a shorter-than-normal stature may also be present. The underlying abnormality is short muscle tendon units, which prevent normal growth and development. We reviewed the anaesthetic experience in three paediatric patients with the trismus pseudocamptodactyly syndrome and the pertinent clinical findings in three other members of the same family, spanning three generations. Limited mandible excursion was present in all six cases, but was not obvious preoperatively in the patients because of its subtle presentation. All three cases were successfully managed using mask anaesthesia with spontaneous ventilation, avoiding muscle relaxants. Attempts to visualize the larynx under anaesthesia were unsuccessful in two cases. Blind nasotracheal intubation was successful in one patient. Postoperatively, there were no problems with the airway.
Vaghadia
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Department of Anaesthesia, British Columbia Children's Hospital, Vancouver.
Blackstock
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D000328:Adult; D000368:Aged; D000768:Anesthesia, General / Q000379:methods*; D005260:Female; D005530:Foot Deformities / Q000601:surgery; D006801:Humans; D007223:Infant; D007442:Intubation, Intratracheal; D008297:Male; D008334:Mandible / Q000002:abnormalities / Q000601:surgery; D008410:Masticatory Muscles / Q000002:abnormalities*; D009055:Mouth / Q000503:physiopathology*; D010375:Pedigree; D013577:Syndrome