Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance
- 1 July 1993
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 46 (6) , 659-664
- https://doi.org/10.1002/ajmg.1320460611
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 absense of limp 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 dysotosis.Keywords
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