| dbo:abstract |
Weismann-Netter–Stuhl syndrome, also known as Weismann-Netter syndrome or tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized by 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 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 including rickets, essentially confirms the diagnosis. (en) |
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dbr:Rickets dbr:Congenital_syphilis dbr:Autosomal_dominant dbr:Dwarfism dbc:Osteopathies dbc:Rare_syndromes dbr:Tibiae dbr:Intellectual_disability dbr:Diaphyses dbr:Fibulae dbr:Bowed_legs dbr:Tibialization |
| dbp:caption |
Weismann-Netter–Stuhl syndrome is inherited in an autosomal dominant manner. (en) |
| dbp:icd |
Q77.8 (en) |
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| dbp:synonyms |
Weismann-Netter syndrome, tibioperoneal diaphyseal toxopachyosteosis (en) |
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| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Weismann-Netter–Stuhl syndrome, also known as Weismann-Netter syndrome or tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized by bowing of the lower legs and an abnormal thickening of thinner bone in the leg. (en) |
| rdfs:label |
Weismann-Netter–Stuhl syndrome (en) |
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wikidata:Weismann-Netter–Stuhl syndrome https://global.dbpedia.org/id/2PPYx |
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wikipedia-en:Weismann-Netter–Stuhl_syndrome?oldid=1118862431&ns=0 |
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