Medicine:Franceschetti–Klein syndrome
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| Franceschetti–Klein syndrome | |
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| 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 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]:577It is sometimes equated with Treacher Collins syndrome.[3]
See also
- Dysostosis
References
- ↑ "The mandibulofacial dysostosis; a new hereditary syndrome". Acta Ophthalmol (Copenh) 27 (2): 143–224. 1949. PMID 18142195.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
- ↑ "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. doi:10.1038/sj.ejhg.5201260. PMID 15340364.
External links
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