Fetal Akinesia Sequence Caused by Nemaline Myopathy
| العنوان: | Fetal Akinesia Sequence Caused by Nemaline Myopathy |
|---|---|
| المؤلفون: | Nathalie Goemans, Martin Lammens, F Lemmens, Jean-Pierre Fryns, G M van de Kamp, René Dom, Philippe Moerman |
| المصدر: | Neuropediatrics. 28:116-119 |
| بيانات النشر: | Georg Thieme Verlag KG, 1997. |
| سنة النشر: | 1997 |
| مصطلحات موضوعية: | Male, Pathology, medicine.medical_specialty, Hydrops Fetalis, Hypokinesia, Neurological disorder, Myopathies, Nemaline, Ultrasonography, Prenatal, Craniofacial Abnormalities, Central nervous system disease, Nemaline myopathy, Pregnancy, Hydrops fetalis, medicine, Humans, Abnormalities, Multiple, Arthrogryposis, Family Health, Fetus, Arthrogryposis multiplex congenita, business.industry, Muscles, Infant, Newborn, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business |
| الوصف: | Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically proven. Seven of the patients belonged to 2 families; the other 2 patients were isolated cases. In one fetal case nemaline myopathy was documented at week 22 of gestation. These observations demonstrate that nemaline myopathy can cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning of the second trimester of pregnancy. |
| تدمد: | 1439-1899 0174-304X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d6ab2c044a0ec39785756474de0512Test https://doi.org/10.1055/s-2007-973683Test |
| رقم الانضمام: | edsair.doi.dedup.....23d6ab2c044a0ec39785756474de0512 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14391899 0174304X |
|---|