التفاصيل البيبلوغرافية
| العنوان: |
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome |
| المؤلفون: |
Gafner, Michal, Haddad, Leila, Gupta, Rachna, Leibovitz, Zvi, Zilberman Ron, Itamar, Ben‐Sira, Liat, Libzon, Stephanie, Gindes, Liat, Boltshauser, Eugen, Lerman‐Sagie, Tally |
| المصدر: |
Developmental Medicine & Child Neurology ; ISSN 0012-1622 1469-8749 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
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 medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1111/dmcn.15845 |
| الإتاحة: |
https://doi.org/10.1111/dmcn.15845Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc-nd/4.0Test/ |
| رقم الانضمام: |
edsbas.298A198A |
| قاعدة البيانات: |
BASE |
