[Foetal akinesia-hypokinesia deformation sequence].
Foetal akinesia-hypokinesia deformation sequence (FADS) involves arthrogryposis, facial deformations, pulmonary hypoplasia, intrauterine growth retardation, polyhydramnios and short umbilical cord. FADS is caused by lack of foetal movements, most often due to neuromuscular diseases. FADS is associated with a high mortality rate, and the infants usually die due to pulmonary hypoplasia. Antenatal diagnosis by ultrasound is possible when the condition is pronounced, or by genetic investigation, on suspicion of a specific underlying disease with known genetics.
Bayat
Allan
A
Aalborg Sygehus, Paediatrisk Afdeling, Denmark. bayabayabayat@hotmail.com
Petersen
Astrid
A
Møller
Margrethe
M
Andersen
Graziella
G
Ebbesen
Finn
F
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics / Q000473:pathology; D001176:Arthrogryposis / Q000235:genetics / Q000473:pathology; D005315:Fetal Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D005317:Fetal Growth Retardation / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D009468:Neuromuscular Diseases / Q000235:genetics / Q000473:pathology; D011379:Prognosis