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Cranial sonographic findings in Joubert's syndrome
Author(s) -
Al Talabani Joanne A.,
Shubbar Adil I.,
Sobkey Ezat
Publication year - 1999
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/(sici)1097-0096(199901)27:1<41::aid-jcu7>3.0.co;2-s
Subject(s) - medicine , joubert syndrome , anatomy , biology , cilium , microbiology and biotechnology
The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonographic findings in 2 children with Joubert's syndrome from 2 families. Two children in the first family and 6 children in the second family were affected by Joubert's syndrome. To our knowledge, cranial sonographic findings in this syndrome have not been described before. © 1999 John Wiley & Sons, Inc. J Clin Ultrasound 27:41–44, 1999.