title: Nager acrofacial dysostosis. An adult male with severe neurological deficit.
abstract: In this report we describe a 50-year old male with Nager Acrofacial Dysostosis. In addition to the typical maxillofacial dysostosis and the bilateral thumb hypoplasia, he presented a severe neurological syndrome with spastic diplegia, hemiparesis of the left arm, and agenesis of the corpus callosum on CT-scan. He died at the age of 50 years from congestive heart failure due to a complete AV-block.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: A
authors.initials: A
authors.lastname: Bonhomme
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D004413:Dysostoses / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006801:Humans; D008297:Male; D008437:Maxilla / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities