Familial inheritance of mandibular arch malformations affecting three individuals in one family.
Mandibular aplasia is defined as incomplete development of the mandibular process of the first brachial arch. Its prevalence is less than 1:70,000. It is usually associated with low-set ears, transposition of the viscera, congenital heart defects, and rib abnormalities, and is incompatible with life. In this case report, fetal demise at 26 weeks' gestation in a previous pregnancy revealed the phenotypic features listed. The second pregnancy described here resulted in therapeutic termination of a similar appearing fetus. Because of this recurrence and a positive family history, familial inheritance is postulated.
Published In/Presented At
Rust, O. A., Bofill, J. A., Boch, H. G., & Roberts, W. E. (1999). Familial inheritance of mandibular arch malformations affecting three individuals in one family. Southern medical journal, 92(5), 505–509. https://doi.org/10.1097/00007611-199905000-00011
Medicine and Health Sciences
Department of Obstetrics and Gynecology