Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
Michal Gafner,
Leila Haddad,
Rachna Gupta
et al.
Abstract:Hydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medica… Show more
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