title: Fetal akinesia and multiple perinatal fractures.
abstract: Two newborn infants with fetal akinesia sequence were noted to have multiple perinatal fractures of the long bones. The radiographic manifestations are characterized by gracile ribs, thin long bones, and multiple diaphyseal fractures. Consistent histopathologic changes of bone are irregular with focal areas of extreme diaphyseal thinning, thin and long marrow spicules, and with or without callous formation at fracture sites. Pathogenic mechanisms of bone fractures in fetal akinesia sequence and the differential diagnoses of congenital/perinatal bone fractures are discussed.
authors.affiliation: Department of Medical Genetics, University of South Alabama, Mobile 36688, USA.
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.forename: W R
authors.initials: WR
authors.lastname: Blackburn
authors.forename: W
authors.initials: W
authors.lastname: Wertelecki
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000209:etiology*; D005324:Fetal Movement; D050723:Fractures, Bone / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D018476:Hypokinesia / Q000150:complications*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy