Tibioperoneal diaphyseal toxopachyosteosis or Weismann-Netter-Stuhl syndrome: difficulties encountered in classifying this syndrome and differentiation from rickets.
Using two new cases and 70 case reports in the literature as a starting point, the authors focus on the Weismann-Netter-Stuhl syndrome. Weismann-Netter and Stuhl reported the first cases of tibioperoneal diaphyseal toxopachyosteosis in 1954. This syndrome is defined as an anomaly of the diaphyseal part of both tibiae and fibulae with posterior cortical thickening and anterior-posterior bowing. This anomaly is usually bilateral and symmetrical, and patients are therefore short in stature. The thickening of the fibula is true "tibialisation" and "is the main feature and the only feature confirming diagnosis". Routine laboratory investigations showed no abnormalities in the two new cases. The authors specify the limits encountered in classifying this anomaly and discuss the degree to which this anomaly is an entity unto itself when compared with rickets sequelae.
Nores
J M
JM
Internal Medicine Department, Raymond Poincaré Hospital, Garches, France.
Monsegu
M H
MH
de Masfrand
V
V
Oberlin
F
F
Denormandie
P
P
Remy
J M
JM
D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis; D001827:Body Height; D003937:Diagnosis, Differential; D018483:Diaphyses / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012279:Rickets / Q000175:diagnosis; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging