[Mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome: apropos of 2 cases].
The Authors report two cases of mandibulofacial dysostosis: a three-months-old girl who presented with palpebral fissures in an antimongoloid direction, cleft palate, coloboma of the lower lid, hypoplasia of the malar bones and mandible, malformation of the external ears, two clefts between the mouth and left ear, minimal naso-frontal angle and a one-month-old boy who presented with similar structural deformities. These features can be considered characteristic of mandibulofacial dysostosis, whose most common finding is the presence of bilateral signs.
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Clinica S. Stefano, Napoli, Italia.
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D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000196:embryology*
La disostosi mandibolo-facciale o sindrome di Franceschetti-Zwahlen-Klein: a proposito di due casi.