JOURNAL OF CRANIOFACIAL SURGERY, vol.20, no.4, pp.1056-1058, 2009 (SCI-Expanded)
Frontofacionasal dysplasia or dysostosis (Mendelian Inheritance in Man 229400) is composed of cranial, ophthalmic, nasal, and lip and palate deformities. It is a rare and separate entity because it contains none of the extracranial defects seen in frontonasal dysplasia and related syndromes.