Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced an educational videotape demonstrating the dynamic behavior of these patients. It is our hope that increased familiarity with the behavior phenotype through this report and through distribution of the videotape will lead to early and accurate diagnosis of further cases of this syndrome. (J Child Neurol 1988;3:247-249).
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References
1.
Joubert M., Eisering JJ, Preston RJ, Anderman F.: Familial agenesis of the cerebellar vermis. Neurology1969;19:813-825.
2.
Boltshauser E., Isler W.: Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropediatrics1977;8: 57-66.
3.
Calogero JA: Vermian agenesis and unsegmented midbrain tectum. J Neurosurg1977;47:605-608.
4.
Friede RL, Boltshauser E.: Uncommon syndromes of cerebellar vermis aplasiaI. Joubert syndrome. Dev Med Child Neurol1979; 20:758-763.
5.
Dralle D., Schmidt-Sommerfeld E.: Zusammenhange zwischen atenregulation and paradoxem schlaf bei einem patienten mit Joubert syndrome. Klin Pediatr1979;191:83-90.
6.
Burroni M., Pezzotta F., Rossolin V.: Sindrome di Joubert. Minerva Pediatr1980;32:763-766.
7.
Curatolo P., Mercari S., Cotroneo E.: Joubert syndrome: A case confirmed by computerized tomography. Dev Med Child Neurol1980;22:363-366.
8.
Lindhart D., Barth PG, Valk J., Boen-Tan TN: The Joubert syndrome associated with bilateral chorioretinal coloboma . Enr J Paediatr1980;134:173-176.
9.
Boltshauser E., Herdan M., Dumermuth G., Isler W.: Joubert syndrome: Clinical and polygraphic observations in a further case. Neuropediatrics1981;12:181-191.
10.
Pfeiffer RA : Joubert syndrome associated with bilateral chorioretinal coloboma. Eur Paediatr1981;137:101-102.
11.
Egger J., Bellman MH, Ross EM, Baraitser M.: Joubort-Goltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psych1982;45:737-739.
12.
King MD, Dudgeon J., Stephenson JBP: Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child1984;59:709-718.
13.
Laverda AM, Saia OS, Drigo, P., et al: Chorioretinal coloboma and Joubert syndrome: A nonrandom association . J Pediatr1984;105:282-284.
14.
Lindhout D. , Barth PG: Chorioretinal coloboma and Joubert syndrome . J Pediatr1985;107:158-159.
15.
Houdou J., Ohno K., Takashima S., Takeshita K.: Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis . Pediatr Neurol1986;2:102-105.
