Year: 2006
Type: dissertation
Abstract: Arthrogryposis is a clinical description of a phenotype caused by fetal immobility.More than 150 conditions presenting with congenital arthrogryposis are known.Prenatally lethal cases of arthrogryposis present a diagnostic challenge although they are more frequently encountered due to improved ultrasound methods.Post-mortem diagnostics is often hampered by fetal maseration.Therefore, accurate diagnosis is at times only descriptive and prognosis is not always possible to predict.The incidence of anterior horn cell disorders associated with arthrogryposis and early fetal demise is poorly known.Thus, more knowledge about the genetics and epidemiology of these disorders is needed.Importantly, identification of the defective pathways in these disorders would most probably expose critical elements in the normal development of human motoneurons.
Source: Työväentutkimus Vuosikirja
Author: Niklas Pakkasjärvi
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: green
Funder: Finska Läkaresällskapet
OpenAlex ID: W1561967962