Nager acrofacial dysostosis. An adult male with severe neurological deficit

Fryns, J.P.; Bonhomme, A.; Van den Berghe, H.; Fryns, J.P; Bonhomme, A; Van den Berghe, H

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Nager acrofacial dysostosis. An adult male with severe neurological deficit

Fryns, J.P.; Bonhomme, A.; Van den Berghe, H.

Genetic Counseling 7(2): 147-151

1996

ISSN/ISBN: 1015-8146

PMID: 8831135

Document Number: 464261

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.