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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

Date of Web Publication5-Feb-2014

Correspondence Address:
Annavarapu Gopalakrishna
Department of Plastic Surgery, J. W. Global Hospital and Research Centre, Delwara road, Mount Abu, Sirohi - 307 501, Rajasthan
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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.

Keywords: Jouber syndrome, Cleft palate, molar tooth sign, congenital anomaly, autosomal recessive

How to cite this article:
Gopalakrishna A, Jinka R, Kumar T S, Khan BA, Mevada K. Joubert syndrome with cleft palate. J Cleft Lip Palate Craniofac Anomal 2014;1:59-61

How to cite this URL:
Gopalakrishna A, Jinka R, Kumar T S, Khan BA, Mevada K. Joubert syndrome with cleft palate. J Cleft Lip Palate Craniofac Anomal [serial online] 2014 [cited 2022 Oct 4];1:59-61. Available from: https://www.jclpca.org/text.asp?2014/1/1/59/126573

  Introduction Top

A study by Joubert et al. described the association of developmental defects of the cerebellar vermis with mental retardation, episodic hyperpnea and abnormal eye movements in four siblings of a family with consanguinity in 11 generations traced to a common ancestor [1],[2],[3] and one sporadic case in 1968. Later Boltshauser and Isler reported three more cases with variable degree of clinical symptoms and suggested the syndrome be called Joubert syndrome. [4] Until date approximately 200 cases have been published in the literature.

Axial magnetic resonance imaging (MRI) reveals a classic Molar Tooth Sign due to a deeper than normal interpeduncular fossa, prominent superior cerebellar peduncles and hypoplasia of the vermis. [1],[4] The term Joubert syndrome and related disorders (JSRD) has been recently adopted to describe all disorders presenting with "molar tooth sign" on MRI. [5],[6],[7]

JSRD have been further classified into (a) pure Joubert's syndrome, (b) Joubert's syndrome with ocular defect, (c) Joubert's syndrome with renal defect, (d) Joubert's syndrome with oculorenal defects, (e) Joubert's syndrome with hepatic defect and (f) Joubert's syndrome with oro-facio-digital defects. [8] Management consists mainly of observation and supportive therapy along with surgical correction of visible anomalies. Life expectancy and quality-of-life depend upon the combination of defects and deformities

  Case Report Top

The present case report is about a 1-year-old female child born to a consanguineous Indian couple attended the plastic surgery outpatient department at Owaisi Hospital and Research center, Hyderabad, with multiple congenital deformities. She was the only child in the family. There was a history of episodes of apnea at birth. There was no history of visible congenital anomalies in the family. There was also history of difficulty in feeding.

Clinical examination revealed oval face with a prominent forehead, low set ears, open mouth, abnormal ocular movements, microform cleft lip, complete cleft of the secondary palate, bifid tongue, a mobile symphysis menti, polydactyly of both hands and feet and a general skeletal muscle weakness [Figure 1], [Figure 2] and [Figure 3]. The milestones of the child were delayed. MRI of the brain showed the classical molar tooth sign in the axial cuts [Figure 4]. With the above findings a diagnosis of Joubert syndrome was made. It was planned to correct the cleft palate, cleft tongue, cleft lip and polydactyly in that order after a counseling session with the parents.
Figure 1: Midline cleft lip and typical facies of joubert syndrome

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Figure 2: Polydactyly of both feet

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Figure 3: Cleft palate and bifid tongue

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Figure 4: The molar tooth sign on an axial cut of magnetic resonance imaging

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After subjecting the patient to general anesthesia when the dingman's mouth gag was introduced and jaw opened, the patient had severe bradycardia which was reversed on releasing the gag. When this occurred 2 or 3 times successively the operation was postponed. At 1-year later, the patient was again taken for surgery. On this occasion the surgery could be performed without any episodes of bradycardia. After an interval of 1 year the bifid tongue was repaired under general anesthesia again [Figure 5]. The patient continues to be in follow-up and is showing development, which is slower than that of corresponding normal children.
Figure 5: Bifid tongue after repair

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  Discussion Top

Joubert syndrome is a well-known but rare, autosomal recessive condition characterized by episodic panting tachypnea alternating with periods of apnea and jerky eye movements in the neonatal period associated with ataxia, psychomotor retardation and cerebellar vermis agenesis or hypoplasia A variety of other abnormalities have been described in children with Joubert syndrome, including a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal problems, kidney abnormalities, soft-tissue tumor of the tongue, liver disease and duodenal atresia.

Mutation in the eight ciliary/basalbody genes INPP5E, AHI1, NPHP1, TMEM67/MKS3 CEP290, RPGRIP1 L, ARL13B and CC2D2A have been identified in subjects with JRDS. The additional locus JBTS2 has been mapped by linkage analysis to chromosome 11. [1]

The clinical presentation of children with Joubert syndrome can include non-specific features such as hypotonia, ataxia and developmental delay. The face shows a characteristic appearance. The features include a large head, a prominent forehead, high rounded eyebrows epicanthal folds, occasional ptosis, an open mouth, tongue protrusion and rhythmic tongue motions, one of the hallmark features of Joubert syndrome is a paucity of postural muscle tone. Infants lie with legs fully abducted. [1]

Axial MRI reveals a classic molar tooth sign due to a deeper than normal interpeduncular fossa, prominent superior cerebellar peduncles and hypoplasia of the vermis. [1],[4]

Some authors have said that the molar tooth sign may not be present in all cases, [9] but most agree that it is a part of the classical presentation. [1],[9],[10],[11] The features necessary for the diagnosis of Joubert syndrome include:

  1. Molar tooth sign
  2. developmental delay
  3. hypotonia in infancy. [1] Irregular breathing pattern in infancy and abnormal ocular movements are supportive evidence. Many children also exhibit dysmorphic facial features including ptosis, arched eyebrows and open mouth. [1]

Difficulty in general anesthesia has been reported in the literature. They are said to be markedly sensitive to opiates. [12] Bradycardia was probably due to a trigeminocardiac reflex. [13]

The cleft palate and the bifid tongue have been repaired and the child is now showing better growth. Further surgeries will include correction of the microform midline cleft lip and polydactyly.

  Conclusion Top

Children with Joubert syndrome can have a reasonably long life expectancy and therefore surgical correction of the deformities should be undertaken at the appropriate time. The genetic basis of JBTS and JRDS is not yet fully understood and genetic mapping is essential to establish a diagnosis.

  References Top

1.Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet 2009;151C:326-40.  Back to cited text no. 1
2.Akcakus M, Gunes T, Kumandas S, Kurtoglu S, Coskun A. Joubert syndrome: Report of a neonatal case. Paediatr Child Health 2003;8:499-502.  Back to cited text no. 2
3.Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011;6:44-7.  Back to cited text no. 3
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4.Egger J, Bellman MH, Ross EM, Baraitser M. Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry 1982;45:737-9.  Back to cited text no. 4
5.Nag C, Ghosh M, Das K, Ghosh T. Joubert syndrome: The molar tooth sign of the mid-brain. Ann Med Health Sci Res 2013;3:291-4.  Back to cited text no. 5
  Medknow Journal  
6.Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol 2013;16:239-44.   Back to cited text no. 6
  Medknow Journal  
7.Paprocka J, Jamroz E. Joubert syndrome and related disorders. Neurol Neurochir Pol 2012;46:379-83.  Back to cited text no. 7
8.Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.  Back to cited text no. 8
9.Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, et al. Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol 1999;14:368-76.  Back to cited text no. 9
10.Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-30.  Back to cited text no. 10
11.Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999;14:660-6.  Back to cited text no. 11
12.Bhaskar P, John J, Sivamurthy SK, Lone RA, Tysarowski PA, Riyas MK, et al. Anesthetic management of an infant with Joubert syndrome for cardiac surgery. J Clin Anesth 2013;25:488-90.  Back to cited text no. 12
13.Lang S, Lanigan DT, van der Wal M. Trigeminocardiac reflexes: Maxillary and mandibular variants of the oculocardiac reflex. Can J Anaesth 1991;38:757-60.  Back to cited text no. 13


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

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