| FranceschettiâKlein syndrome | |
|---|---|
| Other names | Mandibulofacial dysostosis |
 | |
| This condition is inherited in an autosomal dominant manner. | |
FranceschettiâKlein 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]: 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): 143â224. 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): 879â90. doi: 10.1038/sj.ejhg.5201260. PMID 15340364.
External links
| FranceschettiâKlein syndrome | |
|---|---|
| Other names | Mandibulofacial dysostosis |
|
| |
| This condition is inherited in an autosomal dominant manner. | |
FranceschettiâKlein 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]: 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): 143â224. 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): 879â90. doi: 10.1038/sj.ejhg.5201260. PMID 15340364.
External links