Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
| العنوان: | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome |
|---|---|
| المؤلفون: | Farid Radmanesh, Ariana Kariminejad, Seyed-Hasan Tonekaboni, Joseph G. Gleeson, Alireza Rezayi |
| المصدر: | Journal of Child Neurology. 28:651-657 |
| بيانات النشر: | SAGE Publications, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Developmental Disabilities, Cerebral Ventricles, medicine, Polymicrogyria, Humans, Abnormalities, Multiple, Megalencephaly, Dominance, Cerebral, Dominance (genetics), Polydactyly, medicine.diagnostic_test, Brain, Infant, Magnetic resonance imaging, Syndrome, Anatomy, Thin corpus callosum, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Hypotonia, Frontal Lobe, nervous system diseases, Surgery, Hydrocephalus, Malformations of Cortical Development, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Neurology (clinical), medicine.symptom, Psychology |
| الوصف: | This report describes a case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in a 1-year-old boy, born to healthy nonconsanguineous parents. Megalencephaly and bilateral postaxial polydactyly of upper and lower limbs were noted at birth. He had profound developmental delay and moderate hypotonia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus, polymicrogyria in both frontal lobes and perisylvian regions, and thin corpus callosum. Array-comparative genomic hybridization was normal. The patient’s clinical and radiologic findings fit the classic description of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. The possible overlap between megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and other similar conditions is discussed. |
| تدمد: | 1708-8283 0883-0738 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8cc4d40faa7a698f35191943dc9326Test https://doi.org/10.1177/0883073812448530Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....1a8cc4d40faa7a698f35191943dc9326 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17088283 08830738 |
|---|