| Literature DB >> 8362908 |
A Richieri-Costa1, M A Bortolozo, J R Lauris, R C Lauris, M L Guion-Almeida, D Marques, D Moreti.
Abstract
We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.Entities:
Mesh:
Year: 1993 PMID: 8362908 DOI: 10.1002/ajmg.1320460611
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299