Lingual Frenectomy in Joubert Syndrome.

AIM: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. BACKGROUND: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. CASE REPORT: We herewith present a case of JS who reported to our unit with a complaint of speech abnormality. Intraoral examination revealed a tongue-tie which was planned for surgical release. As any drugs that interfere with respiratory depression have to be used with utmost care, adequate precautions were taken in this case and the patient was treated under general anesthesia. The tongue-tie was released and associated ham-artomatous outgrowths from the floor of the mouth were also excised. Appropriate postoperative care was taken and the patient was discharged. CONCLUSION: The patient treated by us did not reveal any significant intraoperative or postoperative complications. Treatment of cases of JS required a team effort of multiple dental and medical specialists. Long-term follow-up of such patients is required so that they achieve normal chronological development. CLINICAL SIGNIFICANCE: Joubert syndrome being a rare disorder requires special anesthetic care during any surgical procedure, especially that involving the oral cavity. The need and timing of surgical intervention in such cases should be carefully assessed and appropriate precautions should be taken.

Freeman-sheldon syndrome presenting with microstomia: a case report and literature review.

Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185-239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.