Radiographic observations of pyknodysostosis. Report of a case.
A case of pyknodysostosis in a 32-year-old woman has been reported. The patient presented typical skeletal changes, separated cranial sutures, open fontanelles, partial aplasia of the terminal phalanges of the fingers and toes, and brachyphalanges. The oral findings included lesions resembling periapical cementoma, hypoplasia of the maxilla and mandible, crowding of teeth, and a median raphe.
D000015:Abnormalities, Multiple; D000328:Adult; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005147:Facial Bones / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008844:Micrognathism; D009056:Mouth Abnormalities / Q000209:etiology; D010022:Osteopetrosis / Q000000981:diagnostic imaging*; D010026:Osteosclerosis / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014071:Tooth Abnormalities / Q000209:etiology