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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Joubert syndrome and related disorders: Report of five Tunisian cases
Journal of Pediatric Neurology, Volume 8, No. 2, Year 2010
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Description
Joubert syndrome and Joubert syndrome related disorders are rare autosomal recessive disorders, clinically and genetically heterogeneous characterized by cerebellar vermis hypoplasia and a peculiar midbrain-hindbrain malformation the "molar tooth sign". Clinical picture is characterized by hypotonia, ataxia, developmental delay, abnormal eye movements and occasionally by abnormal respiratory pattern in the neonatal period. Combination of additional features, such as polydactyly, ocular coloboma, retinal dystrophy, renal disease, hepatic fibrosis, encephalocele, and other brain malformations define various clinical subtypes. We report five cases (belonging to four families) with associated elastopathy in one family. We discuss clinical heterogeneity in particular the unusual association to elastopathy in one family and absence of abnormal neonatal respiratory pattern in all five cases. © 2010 - IOS Press and the authors. All rights reserved.
Authors & Co-Authors
Kraoua, Ichraf
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Youssef-Turki, Ilhem Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Rhouma, Hanen Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Fraj, Narjes
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Nagi, Sonia
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Rouissi, Aïda
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Chelly, Inès
Tunisia, Tunis
Hôpital la Rabta
Haouat, Slim
Tunisia, Tunis
Hôpital la Rabta
Hamouda, Mohamed Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Gouider-Khouja, Neziha
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Statistics
Citations: 10
Authors: 10
Affiliations: 2
Identifiers
Doi:
10.3233/JPN-2010-0382
e-ISSN:
18759041
Research Areas
Disability
Genetics And Genomics
Health System And Policy
Maternal And Child Health