Familial inheritance of mandibular arch malformations affecting three individuals in one family.
Publication/Presentation Date
5-1-1999
Abstract
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.
Volume
92
Issue
5
First Page
505
Last Page
509
ISSN
0038-4348
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
Disciplines
Medicine and Health Sciences
PubMedID
10342898
Department(s)
Department of Obstetrics and Gynecology
Document Type
Article