Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity

In 1987 Buttiens and Fryns [1987: Am J Med Genet 27:651-660] reported on tw o 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 pat ients have been described since. We report on a boy with a similar phenotyp e. Am. J. Med. Genet. 93:19-21, 2000, (C) 2000 Wiley-Liss, Inc.