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June 1958

Mandibulofacial Dysostosis (Franceschetti Syndrome): A Case of the Complete Syndrome

Author Affiliations

Howe Laboratory of Ophthalmology, Harvard University Medical School, Massachusetts Eye and Ear Infirmary.

AMA Arch Ophthalmol. 1958;59(6):882-884. doi:10.1001/archopht.1958.00940070096011

In 1944, the Franceschetti syndrome was recognized as a distinct clinical entity.1 This was followed by the definitive work of Franceschetti and Klein in 1949.2 As a rule, this developmental anomaly does not appear as the full syndrome and has been subdivided into five groups: 1. Complete. This form, which is composed of multiple congenital malformations of the face, mouth, eyes, and ears, was first described in 1923 by de Lima and Monteiro3 but failed to appear in the American literature until the reports of Hurwitz,4 in 1954, and Hunt and Smith,5 in 1955. 2. Incomplete. Despite the usual report of deafness in this commoner form, the ears usually appear normal. It was the report of such cases by Treacher Collins6 in 1900 that led Franceschetti to suggest that the entity be called "Treacher Collins syndrome." 3. Abortive. This shows only lid anomalies, as

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