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This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA. Two stillborn sibling fetuses with arthrogryposis, pterygia, and amyoplasia had compound heterozygous pathogenic variants in <jats:italic>NEB<\/jats:italic>. A neonate with a histopathologic diagnosis of nemaline myopathy had a heterozygous de novo pathogenic variant in <jats:italic>ACTA1<\/jats:italic>. Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in <jats:italic>BICD2<\/jats:italic>. These cases demonstrate the utility of whole genome sequencing as the principal diagnostic method of lethal forms of skeletal muscle disorders that present with arthrogryposis and muscle amyoplasia\/hypoplasia. Molecular diagnosis provides an opportunity for studying patterns of inheritance and for family counseling concerning future pregnancies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38577","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T10:43:01Z","timestamp":1514112181000},"page":"359-367","source":"Crossref","is-referenced-by-count":17,"title":["Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8791-5785","authenticated-orcid":false,"given":"Atif A.","family":"Ahmed","sequence":"first","affiliation":[{"name":"Department of Pathology Children's Mercy Hospital Kansas City Missouri"},{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Skaria","sequence":"additional","affiliation":[{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole P.","family":"Safina","sequence":"additional","affiliation":[{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"},{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri"},{"name":"Division of Clinical Genetics Children's Mercy Hospital Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Thiffault","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Mercy Hospital Kansas City Missouri"},{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"},{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Kats","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Mercy Hospital Kansas City Missouri"},{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Taboada","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Mercy Hospital Kansas City Missouri"},{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sultan","family":"Habeebu","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Mercy Hospital Kansas City Missouri"},{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Saunders","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Mercy Hospital Kansas City Missouri"},{"name":"University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"},{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1097\/00003086-198504000-00005","article-title":"Neuropathologic aspects of arthrogryposis multiplex congenita","volume":"194","author":"Banker B. 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