ACROFACIAL DYSOSTOSES - REVIEW AND REPORT OF A PREVIOUSLY UNDESCRIBEDCONDITION - THE AUTOSOMAL OR X-LINKED DOMINANT CATANIA FORM OF ACROFACIAL DYSOSTOSIS

The acrofacial dysostoses (AFDs) are a heterogeneous group of disorder s combining defects of craniofacial and limb development. The predomin antly preaxial form is called Nager AFD, the predominantly postaxial f orm of AFD (POADS) is also known as the Genee-Wiedemann or Miller synd rome. The former appears to be about twice as common as the latter wit h well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sib s are suggestive of AR inheritance. Heterogeneity of apparently nonsyn dromal AFD of both types is powerful support for the hypothesis that t he AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Ke lly et al. (AR), the Rodriguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked do minant form of AFD with mental retardation in a Sicilian mother and he r 4 sons. (C) 1993 Wiley-Liss, Inc.