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- Title
A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia.
- Authors
Uzunhan, Tuğçe Aksu; Sayınbatur, Bahattin; Çalışkan, Mine; Şahin, Ayşe; Aydın, Kubilay
- Abstract
The article describes the case of a 5-month old male patient admitted with global developmental delay. Topics covered include a diagnosis of Cri-du-chat syndrome suggested by the patient's syndromic face and MRI findings and confirmed when karyotype analysis showed a deletion in the short arm of chromosome 5, hypoplasia of the brainstem as an important radiological feature of Cri-du-chat syndrome and the role of pontine and brainstem hypoplasia on MRI on the correct diagnosis of the syndrome.
- Subjects
CRI-du-chat syndrome; CHROMOSOME abnormalities; MAGNETIC resonance imaging; DIAGNOSIS
- Publication
Annals of Indian Academy of Neurology, 2014, Vol 17, Issue 2, p209
- ISSN
0972-2327
- Publication type
Case Study
- DOI
10.4103/0972-2327.132635