title: Familial inheritance of mandibular arch malformations affecting three individuals in one family.
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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson 39216-4505, USA.
authors.forename: O A
authors.initials: OA
authors.lastname: Rust
authors.forename: J A
authors.initials: JA
authors.lastname: Bofill
authors.forename: H G
authors.initials: HG
authors.lastname: Boch
authors.forename: W E
authors.initials: WE
authors.lastname: Roberts
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D005260:Female; D006801:Humans; D008334:Mandible / Q000002:abnormalities*; D013577:Syndrome