HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS - ANOTHER CASE AND REVIEW

We report on a third case of hypomandibular faciocranial dysostosis an d review the literature. Manifestations include craniosynostosis, prom inent eyes, deficient midface and zygomatic arches, short nose with an teverted nares, protruding lower face, minute oral aperture, persisten t buccopharyngeal membrane, and severe mandibular hypoplasia. In contr ast to coronal synostosis found in the 2 earlier cases, our patient ha d multiple sutural synostosis. The 2 affected sibs reported earlier su ggest the possibility of autosomal recessive inheritance. However, gon adal mosaicism for a dominant mutation or an undetected microdeletion must also be considered at this early stage in the delineation of this disorder. (C) 1993 Wiley-Liss, Inc.