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]: 577 It is sometimes equated with Treacher Collins syndrome.[3]
Franceschetti–Klein syndrome
Other names
Mandibulofacial dysostosis
This condition is inherited in an autosomal dominant manner.
^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. ISBN0-7216-2921-0.
^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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franceschetti, klein, syndrome, also, known, mandibulofacial, dysostosis, syndrome, that, includes, palpebral, antimongoloid, fissures, hypoplasia, facial, bones, macrostomia, vaulted, palate, malformations, both, external, internal, buccal, auricular, fistula. 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 2 577 It is sometimes equated with Treacher Collins syndrome 3 Franceschetti Klein syndromeOther namesMandibulofacial dysostosisThis condition is inherited in an autosomal dominant manner SpecialtyMedical genetics alt Franceschetti Klein syndrome Medical conditionSee also editDysostosisReferences edit 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 External links editThis Genodermatoses article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Franceschetti Klein syndrome amp oldid 1222448280, wikipedia, wiki, book, books, library,
