کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5626269 1406313 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures
ترجمه فارسی عنوان
دیستوستیز ماندیبولا فاسیال با میکروسفالی: یک مورد با تشنج
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی

We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21 months of age. Electroencephalography revealed occasional spike discharges from the right frontal area. Head magnetic resonance imaging revealed dilatation of the lateral ventricles and a small frontal lobe volume. Whole exome sequencing revealed a de novo frame shift mutation, c.2698_2701 del, of EFTUD2. The epileptic focus was consistent with the reduced frontal lobe volume on head magnetic resonance imaging. Seizures are thus a main feature of mandibulofacial dysostosis with microcephaly, which results from an embryonic development defect due to the EFTUD2 mutation.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 39, Issue 2, February 2017, Pages 177-181
نویسندگان
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