| 词条 | Franceschetti–Klein syndrome |
| 释义 |
| name = Franceschetti–Klein syndrome | synonyms = | image = Autosomal dominant - en.svg | image_size = 140px | caption = This condition is inherited in an autosomal dominant manner. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 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]{{rp|577}} It is sometimes equated with Treacher Collins syndrome.[3] See also
References1. ^{{cite journal |vauthors=FRANCESCHETTI A, KLEIN D |title=The mandibulofacial dysostosis; a new hereditary syndrome |journal=Acta Ophthalmol (Copenh) |volume=27 |issue=2 |pages=143–224 |year=1949 |pmid=18142195 |doi= |url=}} 2. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 3. ^{{cite journal |vauthors=Teber OA, Gillessen-Kaesbach G, Fischer S |title=Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation |journal=Eur. J. Hum. Genet. |volume=12 |issue=11 |pages=879–90 |date=November 2004 |pmid=15340364 |doi=10.1038/sj.ejhg.5201260 |display-authors=etal}} External links{{Medical resources| DiseasesDB = 13267 | ICD10 = | ICD9 = {{ICD9|756.0}} | ICDO = | OMIM = 154500 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Congenital malformations and deformations of musculoskeletal system}}{{Nucleus diseases}}{{DEFAULTSORT:Franceschetti-Klein syndrome}}{{Genodermatoses-stub}} 3 : Genodermatoses|Congenital disorders of musculoskeletal system|Rare syndromes |
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