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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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Gupta, P.; Mittal, R.; Mittal, S.; Shankar, V. (2014).
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and an abnormal thickening of thinner bone in the leg.
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44:Weismann-Netter–Stuhl syndrome is inherited in an
381:Weismann-Netter, R.; Stuhl, L. (1954-11-24). "".
354:Beighton, Peter; Beighton, Greta (2012-12-06).
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305:American Journal of Medical Genetics. Part A
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63:tibioperoneal diaphyseal toxopachyosteosis
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96:as well as a process known as
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22:Weismann-Netter–Stuhl syndrome
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357:The Man Behind the Syndrome
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215:(feb04 2): bcr2013201772.
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135:Gene therapy if possible
67:bowing of the lower legs
59:Weismann-Netter syndrome
274:10.1002/ajmg.1320290315
221:10.1136/bcr-2013-201772
94:intellectual disability
150:This section is empty.
122:Radiographic features
317:10.1002/ajmg.a.33019
180:congenital syphilis
474:External resources
383:La Presse Médicale
86:autosomal dominant
46:autosomal dominant
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161:August 2017
27:Other names
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190:References
131:Management
101:including
395:0032-7867
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282:0148-7299
229:1757-790X
117:Diagnosis
92:and mild
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483:Orphanet
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90:dwarfism
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443:: Q77.8
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459:MeSH
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391:ISSN
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