Franceschetti–Klein syndrome
| Franceschetti–Klein syndrome | |
|---|---|
| Other names | Mandibulofacial dysostosis |
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| This condition is inherited in an autosomal dominant manner. | |
Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis")[1] is a syndrome that includes , hypoplasia of the facial bones, macrostomia, , malformations of both the external and internal ear, , abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.[2]: 577 It is sometimes equated with Treacher Collins syndrome.[3]
See also[]
References[]
- ^ FRANCESCHETTI A, KLEIN D (1949). "The mandibulofacial dysostosis; a new hereditary syndrome". Acta Ophthalmol (Copenh). 27 (2): 143–224. PMID 18142195.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Teber OA, Gillessen-Kaesbach G, Fischer S, et al. (November 2004). "Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation". Eur. J. Hum. Genet. 12 (11): 879–90. doi:10.1038/sj.ejhg.5201260. PMID 15340364.
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| Classification |
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Categories:
- Genodermatoses
- Congenital disorders of musculoskeletal system
- Rare syndromes
- Genodermatoses stubs