Focal cerebral anomalies and retinal dysplasia in a 23–24-week-old fetus
| Autor: | Catherine Nessmann, Jeanne-Claudie Larroche |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Lissencephaly Autopsy Retina Fetus Developmental Neuroscience Pregnancy medicine Humans Diaphragmatic hernia Histocytochemistry business.industry Brain Type II lissencephaly General Medicine Anatomy medicine.disease Hydrocephalus Dysplasia Pediatrics Perinatology and Child Health Retinal dysplasia Female Neurology (clinical) business |
| Zdroj: | Brain and Development. 15:51-56 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/0387-7604(93)90006-t |
| Popis: | A 23–24-week-old fetus was the product of a normal pregnancy terminated because of diaphragmatic hernia and hydrocephalus diagnosed by ultrasound. Karyotype on fetal blood was normal. At autopsy, hydrocephalus was associated with multiple large intrameningeal nodules and focal cerebral dysplasia resembling type II lissencephaly. In addition, many structures of the brainstem were dysmorphic and the retina showed multiple rosettes. Skeletal muscle was normal. The peculiar features described in this case pose problems for classification and genetic implications of the anomalies. |
| Databáze: | OpenAIRE |
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