title: Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?
abstract: We describe a boy with mild manifestations of the Bannayan-Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hypertrophy on the right side of the body, large and irregular café-au-lait spots, and cutaneous telangiectasia on large parts of the body and a cavernous hemangioma on the internal side of the left leg; soft cutaneous masses were present in the left axilla and inner part of the left arm; hypotonia and mild neurologic dysfunction were also present. BZS is reported as an autosomal dominant condition with variable expressivity; analysis of our data and those reported in the literature suggest that the interfamilial variability observed might represent different allelic mutations, or genetic heterogeneity.
authors.affiliation: Department of Biology, University of São Paulo, Brazil.
authors.forename: D
authors.initials: D
authors.lastname: Moretti-Ferreira
authors.forename: C P
authors.initials: CP
authors.lastname: Koiffmann
authors.forename: D H
authors.initials: DH
authors.lastname: Souza
authors.forename: A J
authors.initials: AJ
authors.lastname: Diament
authors.forename: A
authors.initials: A
authors.lastname: Wajntal
mesh_terms: D000483:Alleles; D005799:Genes, Dominant; D006257:Head / Q000002:abnormalities*; D006391:Hemangioma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008067:Lipoma / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome