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Familial inheritance of mandibular arch malformations affecting three individuals in one family
O A Rust1, J A Bofill, H G Boch
1Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson 39216-4505, USA.
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.