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CASE REPORT
Year : 2014  |  Volume : 1  |  Issue : 1  |  Page : 59-61

Joubert syndrome with cleft palate


1 Department of Plastic Surgery, J W Global Hospital and Research Centre, Mount Abu, Sirohi, Rajasthan, India
2 Consultant Plastic Surgeon, J W. Global Hospital and Research Centre, Mount Abu, Sirohi, Rajasthan, India
3 Department of Plastic Surgery, Deccan College of Medical Sciences, Hyderabad, Andhra Pradesh, India
4 Department of Anaesthesia, Deccan College of Medical Sciences, Hyderabad, Andhra Pradesh, India
5 Department of Otorhinolaryngology, J W Global Hospital and Research Centre, Mount Abu, Sirohi, Rajasthan, India

Correspondence Address:
Annavarapu Gopalakrishna
Department of Plastic Surgery, J. W. Global Hospital and Research Centre, Delwara road, Mount Abu, Sirohi - 307 501, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2348-2125.126573

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Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as polydactyly, retinal abnormalities, renal malformations, tongue and other orofacial malformations including midline cleft lip have been reported. In the review of literature we did not come across specific mention of a cleft palate. Until date approximately 200 such cases have been reported in the literature. We present a case of a 7-year-old female patient who has been under treatment since she was 1 year old. She had a microform midline cleft of the lip, a complete cleft of the secondary palate, polydactyly in both hands and feet, along with the features of Joubert syndrome including episodes of apnea and tachypnea, abnormal ocular movements, atonia and the classic "molar tooth sign" on axial magnetic resonance imaging.


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