Literature DB >> 6651451

[Joubert's syndrome. Apropos of 5 cases].

J Aicardi, M E Castello-Branco, C Roy.   

Abstract

Five cases of Joubert syndrome in 2 consanguineous sibships are reported. The characteristic polypnea and respiratory pauses were recorded polygraphically during both active and quiet sleep in 2 infants and only in active sleep in another one. Tapetoretinal degeneration was found in both sibships and a chorioretinal coloboma in the 2 affected infants of the second family. The CT scan images in the syndrome and its differential diagnosis are discussed.

Entities:  

Mesh:

Year:  1983        PMID: 6651451

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  8 in total

1.  Genetic aspects of congenital cerebellar ataxia.

Authors:  D Kumar
Journal:  Indian J Pediatr       Date:  1986 Nov-Dec       Impact factor: 1.967

2.  Vermian agenesis without posterior fossa cyst.

Authors:  C Adamsbaum; V Moreau; C Bulteau; J Burstyn; F Lair Milan; G Kalifa
Journal:  Pediatr Radiol       Date:  1994

Review 3.  Aplasia of the cerebellar vermis associated with chronic renal disease. A report of six cases and a review of the literature.

Authors:  B Keuth; U Alon; A Fuchshuber; D Michalk; U Querfeld
Journal:  Eur J Pediatr       Date:  1996-11       Impact factor: 3.183

4.  Joubert syndrome: a clinico-radiological study.

Authors:  B Kendall; D Kingsley; S R Lambert; D Taylor; P Finn
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

5.  Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

Authors:  M D King; J Dudgeon; J B Stephenson
Journal:  Arch Dis Child       Date:  1984-08       Impact factor: 3.791

6.  Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Authors:  Brian P Brooks; Wadih M Zein; Amy H Thompson; Maryam Mokhtarzadeh; Daniel A Doherty; Melissa Parisi; Ian A Glass; May C Malicdan; Thierry Vilboux; Meghana Vemulapalli; James C Mullikin; William A Gahl; Meral Gunay-Aygun
Journal:  Ophthalmology       Date:  2018-07-25       Impact factor: 12.079

7.  Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Authors:  Giulio Ruberto; Vincenzo Parisi; Chiara Bertone; Sabrina Signorini; Mauro Antonini; Enza Maria Valente; Federica Manzoni; Valentina Serpieri; Riccardo Fausto; Luciano Quaranta
Journal:  Adv Ther       Date:  2020-07-15       Impact factor: 3.845

8.  Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.

Authors:  Giulio Ruberto; Vincenzo Parisi; Chiara Bertone; Sabrina Signorini; Mauro Antonini; Enza Maria Valente; Federica Manzoni; Valentina Serpieri; Riccardo Fausto; Luciano Quaranta
Journal:  Adv Ther       Date:  2020-10-24       Impact factor: 3.845

  8 in total

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