MANDIBULOFACIAL dysostosis, a rare congenital malformation of the facial bones, was first described in 1889 by Berry,1 who presented two cases. Treacher Collins2 presented two additional cases in 1900, at which time the condition became known as the "Treacher Collins' syndrome." Since then, the various titles under which the syndrome has been presented have served only to confuse its recognition. Fischer3 described it as "congenital craniofacial hemiatrophy"; Sanvenero-Roselli * called it "microgenia with bilateral microtia and congenital malformation of the palpebral apparatus"; McEnery and Brennemann6 named it "multiple facial anomalies," and Debusmann7 labeled it "familial combined facial malformation in the region of the first visceral arch."
Franceschetti,† in an attempt to clarify the nomenclature, designated the condition as "Mandibulofacial dysostosis." Contrariwise, this resulted in its becoming known as "Franceschetti's disease."
A detailed search of all available literature reveals only 38 reported cases, with but few from
HURWITZ P. MANDIBULOFACIAL DYSOSTOSIS. AMA Arch Ophthalmol. 1954;51(1):69-72. doi:10.1001/archopht.1954.00920040071009