Punctate epiphyses associated with Turner syndrome.
The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly - for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the X chromosome. A case of Turner syndrome with punctate calcification of the epiphyses is described.
Morrison
S C
SC
Department of Radiology, Rainbow Babies & Children's Hospital of the University Hospitals Health System, 11100 Euclid Avenue, Cleveland, OH 44106, USA.
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000151:congenital / Q000000981:diagnostic imaging*; D004838:Epiphyses / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics; D014960:X Chromosome