[Mandibulofacial dysostosis].
Also known as Treacher-Collins or Franceschetti-Zwahlen-Klein syndrome, the mandibulofacial dysostosis is characterized by bilateral involvement of facial structures, including malar and mandibular hypoplasia, underdeveloped zygomatic bone, antimongoloid slant and external and middle ear anomalies. The syndrome is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. The authors report the case of a 19-years-old patient with characteristic cranio-facial malformations.
Centrul de Diagnostic Precoce şi Recuperare Medicală pentru Copii, Timişoara.
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D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000503:physiopathology; D012029:Refraction, Ocular; D014792:Visual Acuity
Disostoza mandibulo-facială.