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Clinical and molecular features of Joubert syndrome and related disorders

✍ Scribed by Melissa A. Parisi


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
305 KB
Volume
151C
Category
Article
ISSN
1552-4868

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Clinical and molecular analysis in Joube
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Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome

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## Abstract We describe the prenatal imaging of 2 fetuses at risk for Joubert syndrome (JS). In the first case, the mother, who had previously given birth to a child with JS, was referred to our hospital at 17 weeks' gestation. The prenatal diagnosis of JS complicated with an encephalocele was made

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The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. The latter refers to the retention of white cells in the marrow, which becomes hypercellular. We have found approximately 20 examples of WHIM syndrome in the literature under various designations; the first examp