Maxillofacial dysostosis.
Four individuals in a single family affected with maxillofacial dysostosis are reported. Maxillary hypoplasia, delayed onset of speech, and poor development of language skills without associated hearing loss are the main characteristics of the syndrome which is transmitted as an autosomal dominant. Cephalometric analysis and speech and hearing evaluation of our patients confirmed the above findings.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D008437:Maxilla / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype