title: Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.
abstract: 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 growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and 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 cephalometric and metacarpophalangeal profiles in this family showed no distinctive diagnostic abnormalities. This family confirms the Catania brachydactylous type of AFD and supports an autosomal dominant mode of inheritance, although male-to-male transmission has not been demonstrated.
authors.affiliation: Department of Pediatrics, University of Maryland School of Medicine, Baltimore, USA.
authors.forename: E A
authors.initials: EA
authors.lastname: Wulfsberg
authors.forename: A B
authors.initials: AB
authors.lastname: Campbell
authors.forename: I W
authors.initials: IW
authors.lastname: Lurie
authors.forename: K R
authors.initials: KR
authors.lastname: Eanet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003731:Dental Caries / Q000150:complications / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D017880:Limb Deformities, Congenital; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy