Frontometaphyseal dysplasia--evidence for X-linked inheritance.
Fewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no information is available on possible variable manifestations in female relatives. Statements that the disorder is inherited as a dominant trait, and as an X-linked recessive have caused us to consider genetic heterogeneity. A recent large kindred prompted us to survey all published examples. We asked authors to reexamine the families they studied for any expression in relatives. In some cases, no further information could be elicited, but some additional information was gathered and pedigrees modified. This evidence was sufficient to indicate X-linked inheritance, with severe manifestations in males and extremely variable manifestations in females.
D001848:Bone Diseases, Developmental / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012189:Retrospective Studies; D012730:Sex Chromosomes; D012737:Sex Factors; D014960:X Chromosome