title: X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males.
abstract: We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X-linked recessive inheritance and survival of affected males which has not previously been reported. Four affected males in three generations have survived into infancy and two female heterozygotes have very mild expression. Foetal ultrasonography enabled antenatal diagnosis.
authors.affiliation: Prince of Wales Children's Hospital, Randwick, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Edwards
authors.forename: D
authors.initials: D
authors.lastname: Mulcahy
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000013:Congenital Abnormalities / Q000196:embryology*; D005260:Female; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D009958:Orofaciodigital Syndromes / Q000235:genetics* / Q000401:mortality; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014960:X Chromosome