Familial variant of maxillonasal dysplasia?
A rare syndrome comprising midfacial hypoplasia, lack of anterior nasal spine, and malocclusion is described. To the best of our knowledge, only sporadic cases with a similar cluster of defects have been reported, usually with the appellation of Binder syndrome. We describe an affected mother and daughter, thus suggesting a dominant mode of inheritance.
D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008437:Maxilla / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009295:Nasal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome