CONFIRMATION OF THE CATANIA BRACHYDACTYLOUS TYPE OF ACROFACIAL DYSOSTOSIS - REPORT OF A 2ND FAMILY

The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or postaxial limb abnormalities. In 1993, Opitz et al. [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine grow th retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasi a with brachydactyly, mild interdigital webbing, and cryptorchidism an d hypospadias in males. We report a mother and daughter with this same phenotype, confirming this new type of AFD and expanding the clinical phenotype to include frequent dental caries. Analysis of cephalometri c and metacarpophalangeal profiles in this family showed no distinctiv e diagnostic abnormalities. This family confirms the Catania brachydac tylous type of AFD and supports an autosomal dominant mode of inherita nce, although male-to-male transmission has not been demonstrated. (C) 1996 Wiley-Liss, Inc.