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. [ncbi.nlm.nih.gov]

From the cases thus far reported, we would anticipate that the phenotype is present in a very heterogeneous group of disorders--heterogeneous both with regard to the specific anomalies present and with regard to the causes (which must include many environmental [scienceopen.com]

Verdonck Medicine, Psychology Neuropediatrics 1987 A comprehensive prospective clinical study is presented of 75 cases of fetal hypokinesia and congenital contractures of various causes, with neuropathological investigation in 23 cases, and the etiologic [semanticscholar.org]

We also report a clinical case of neonatal SMA presenting the classical signs of fetal hypokinesia deformation sequence. [analesdepediatria.org]

• Respiratory Distress

  Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics, 53 (1974), pp. 33-40 [37.] M. Cunningham, J. Stocks. -Hoffmann disease. The effects of intrauterine onset on lung growth. [analesdepediatria.org]

• Akinesia

  We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome. [ncbi.nlm.nih.gov]

  Akinesia is a medical disorder which is characterized by impaired muscle movement. Akinesia is a motor disorder that is also classified as a symptom. Akinesia is a condition marked by problems initiating or starting physical movements. [tr-ex.me]

The ability to provide prenatal diagnosis and perhaps prenatal treatment in the future may allow us to alter dramatically the natural history of some cases. In others, we need to establish when treatment is possible and when it gives no benefit. [scienceopen.com]

Verdonck Medicine, Psychology Neuropediatrics 1987 A comprehensive prospective clinical study is presented of 75 cases of fetal hypokinesia and congenital contractures of various causes, with neuropathological investigation in 23 cases, and the etiologic [semanticscholar.org]

Diagnostic evaluation of patients with this group of anomalies should include the identification of the underlying pathologic process (etiology of the akinesia) to allow for proper classification and genetic counseling. [scienceopen.com]

Clinical and epidemiological characteristics. Am J Med Genet, 56 (1995), pp. 374-381 [15.] M.L. Martínez Frías, V. Félix, F. Hernández, M. Martín, J.A. López, A. Ayala. Síndromes con defectos del tubo neural: Análisis epidemiológico en España. [analesdepediatria.org]