Franceschetti–Klein syndrome explained

Franceschetti–Klein syndrome
Synonyms:	Mandibulofacial dysostosis
Field:	Medical genetics

Franceschetti–Klein syndrome (also known as "mandibulofacial dysostosis")^[1] is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.^[2] It is sometimes equated with Treacher Collins syndrome.^[3]

See also

• Dysostosis

Notes and References

1. FRANCESCHETTI A, KLEIN D . The mandibulofacial dysostosis; a new hereditary syndrome . Acta Ophthalmol (Copenh) . 27 . 2 . 143–224 . 1949 . 18142195 .
2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
3. Teber OA, Gillessen-Kaesbach G, Fischer S . Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation . Eur. J. Hum. Genet. . 12 . 11 . 879–90 . November 2004 . 15340364 . 10.1038/sj.ejhg.5201260 . etal. free .