Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS).
Arthrogryposis multiplex congenital (AMC) is the presence at birth of multiple congenital contractures in an intact skeleton. The severity of the condition is highly variable and the possible underlying causes are numerous. Fetal immobility and lesions of the brain, spinal cord, peripheral nerves and muscle, along with mechanical restriction of the fetus in utero are the pathogenic mechanisms that need to be considered. Etiological factors that have been implicated in the development of AMC include genetic conditions, infections, drugs, toxins, maternal hyperthermia, and maternal illness. This review will concentrate on the severe end of the spectrum of AMC that results in disease that is lethal pre- or postnatally, and will discuss the pathology, pathogenesis, etiology, and practical approach to this diversely expressed condition.
Porter
H J
HJ
Department of Paediatric Pathology, St. Michael's Hospital, Bristol, United Kingdom.
D001176:Arthrogryposis / Q000175:diagnosis / Q000209:etiology / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn