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Weismann-Netter-Stuhl syndrome
Weismann-Netter-Stuhl syndrome, also known as Weismann-Netter Syndrome or more technically by the term tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized bowing of the lower legs and an abnormal thickening of thinner bone in the leg.
The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and fibulae. It is thought to be inherited in an autosomal dominant fashion, and is most often bilateral and symmetric in nature. Associated features include dwarfism and mild intellectual disability, as well as a process known as tibialization of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae.〔Robinow M, Johnson GF. The Weismann-Netter syndrome. Am J Med Genet. 1988 Mar;29(3):573-9. PubMed PMID 3377000.〕 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 including rickets, essentially confirms the diagnosis.
== Radiographic features ==
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.〔Peippo, M., Valanne, L., Perhomaa, M., Toivanen, L., Ignatius, J. Weismann-Netter syndrome and mental retardation: a new patient and review of the literature. Am. J. Med. Genet. 149A: 2593-2601, 2009. (19839038 )〕
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