Familial congenital pseudarthrosis of the ulna.
A mother and daughter, both presented with congenital pseudarthrosis of the ulna due to neurofibromatosis. The daughter is one of identical twins, the second twin not having a pseudarthrosis. The mother's uncle also had pseudarthrosis of the tibia. This suggests a complex variable genetic inheritance pattern for pseudarthrosis in neurofibromatosis. Despite having had no treatment, the mother had minimal symptoms, minimal deformity, and no radial head dislocation.
Craigen
M A
MA
Department of Orthopaedics, Southampton General Hospital, UK.
Clarke
N M
NM
D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D017253:Neurofibromatoses / Q000000981:diagnostic imaging / Q000235:genetics*; D011542:Pseudarthrosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D014430:Twins, Monozygotic / Q000235:genetics; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging