title: Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature.
abstract: Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.
authors.affiliation: Department of Pathology, University of Groningen, The Netherlands.
authors.forename: B H
authors.initials: BH
authors.lastname: Sombekke
authors.forename: W M
authors.initials: WM
authors.lastname: Molenaar
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: C J
authors.initials: CJ
authors.lastname: Schoots
mesh_terms: D001176:Arthrogryposis / Q000150:complications*; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital* / Q000401:mortality