Familial inheritance of mandibular arch malformations affecting three individuals in one family

Mandibular aplasia is defined as incomplete development of the mandibular p rocess 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, con genital heart defects, and rib abnormalities, and is incompatible with life . In this case report, fetal demise at 26 weeks' gestation in a previous pr egnancy revealed the phenotypic features listed. The second pregnancy descr ibed here resulted in therapeutic termination of a similar appearing fetus. Because of this recurrence and a positive family history, familial inherit ance is postulated.