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The most prominent and extensively documented findings of
Weismann-Netter–Stuhl syndrome are on plain radiographs of the bones. Findings include bilateral and symmetric anterior bowing of both tibiae and fibulae, lateral bowing of the tibiae, femoral bowing, and squaring of iliac and pelvis bones.
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of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae. The combination of the presence of tibialization of the fibulae, which is highly specific for the disorder, and the absence of laboratory abnormalities, ruling out alternative diagnoses
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The features of this disorder were first described by French doctors Robert
Weismann-Netter (1894–1980) and L. Stuhl in their report first describing the association in seven patients in 1954. They believed these seven patients had mistakenly been diagnosed as
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Peippo, Maarit; Valanne, Leena; Perhomaa, Marja; Toivanen, Leena; Ignatius, Jaakko (November 2009). "Weismann-Netter syndrome and mental retardation: a new patient and review of the literature".
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This condition is currently felt to be a genetic disorder, caused by inheritance of an abnormal gene via autosomal dominant inheritance.
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fashion and is most often bilateral and symmetric in nature. Associated features include
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Robinow, M.; Johnson, G. F. (March 1988). "The
Weismann-Netter syndrome".
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The main sign is anterior bowing and posterior cortical thickening of the
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Weismann-Netter syndrome, tibioperoneal diaphyseal toxopachyosteosis
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216:"Weismann-Netter-Stuhl syndrome: report of two cases and treatment"
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and an abnormal thickening of thinner bone in the leg.
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55:Weismann-Netter–Stuhl syndrome is inherited in an
392:Weismann-Netter, R.; Stuhl, L. (1954-11-24). "".
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365:Beighton, Peter; Beighton, Greta (2012-12-06).
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78:bowing of the lower legs
70:Weismann-Netter syndrome
285:10.1002/ajmg.1320290315
232:10.1136/bcr-2013-201772
105:intellectual disability
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133:Radiographic features
328:10.1002/ajmg.a.33019
191:congenital syphilis
485:External resources
394:La Presse Médicale
97:autosomal dominant
57:autosomal dominant
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128:Diagnosis
103:and mild
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101:dwarfism
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454:: Q77.8
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