Abstract
In 1987 Buttiens and Fryns [1987: Am J Med Genet 27:651–660] reported on two sibs, brother and sister, with severe distal limb defects, micrognathia, and mild to moderate mental retardation. The male also showed severe myopia and oligomeganephronia. To the best of our knowledge, no other similar patients have been described since. We report on a boy with a similar phenotype. Am. J. Med. Genet. 93:19–21, 2000. © 2000 Wiley-Liss, Inc.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have