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Weismann Netter Syndrome

Weismann-Netter Syndrome


Presentation

  • Anterior bowing of legs with dwarfism WNS Weismann-Netter-Stuhl syndrome Prevalence: Unknown Inheritance: - Age of onset: Neonatal ICD-10: Q77.8 OMIM: 112350 UMLS: C1862172 MeSH: C537082 GARD: 5232 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • The clinical presentation was short stature with bowing of lower legs with characteristic radiological findings.[mafiadoc.com]
  • They named the condition "toxopachyostéose diaphysaire tibio-péronière," which presently is known as Weismann-Netter syndrome (WNS) (OMIM 112350). Since then more than 100 patients have been published.[ncbi.nlm.nih.gov]
  • Individuals affected with this syndrome usually present with 11 pairs of ribs instead of 12. ...[accessanesthesiology.mhmedical.com]
Short Stature
  • The Weismann-Netter syndrome is a rare, heritable dysplasia of anterior bowing of tibiae and fibulae, often with lateral bowing of femora, short stature, and mild mental retardation.[ncbi.nlm.nih.gov]
Goiter
  • The association of mental retardation, goiter, and anemia previously described are felt to be coincidental. At present, this syndrome seems to be some sort of diaphyseal dysplasia, which may be familial or sporadic.[ajronline.org]
  • Present Case 14yrs/F Francis et al11 4yrs/M Roninow et al3 8yrs/M Bowed lower extremity Short stature Ambulation delay Weismann et al1,9 (5 cases) 16yrs F 10yrs M 15yrs M - - - Kyphoscoliosis - - - - - - Family history - - Mental retardation - - - - - Goiter[mafiadoc.com]
  • There have been reports of intellectual disability in some children as well as an enlarged thyroid (goiter) and low levels of circulating red blood cells (anemia).[rarediseases.org]
Eruptions
  • Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption[orpha.net]
  • Bowed humori - - - - Exaggerated trabeculation - - - - Thin posterior ribs - - - - - Coxa vara - - - - Horizontal sacrum - - - - Sacralization of L5 - - - - Low set L5 - - - - (N) fracture healing (N) growth velocity 8yrs F Aminoaciduria Delayed dental eruption[mafiadoc.com]
  • The palate was high-arched, the teeth irregularly placed, and an additional right upper canine tooth had erupted in a second row.[zdoc.site]
Skeletal Dysplasia
  • Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias.[ncbi.nlm.nih.gov]
  • KEY WORDS: Weismann-Netter-Stuhl syndrome; Skeletal dysplasia INTRODUCTIONΨ Weismann-Netter-Stuhl Syndrome is a rare heritable skeletal dysplasia, which often presents as asymptomatic bowing of lower leg or short stature.1 This condition is usually bilateral[mafiadoc.com]
  • PROMOTING ACCESS TO AFRICAN RESEARCH Weismann-Netter-Stuhl Syndrome – a rare form of skeletal dysplasia Abstract A case of Weismann-Netter-Stuhl syndrome was described because of its rare entity in pediatric age group.[ajol.info]
Coxa Vara
  • Occasional bone lesions seen in WNS syndrome are femoral incurvature and exostoses, bilateral coxa vara, bowing of radius and ulna, metacarpal shortening, dolichophalangy, kyphoscoliosis, costal deformity, iliac wings and horizontal sacrum. 3 , 4 , 5[ncbi.nlm.nih.gov]
Bowing of Tibia
  • The Weismann-Netter syndrome is a rare, heritable dysplasia of anterior bowing of tibiae and fibulae, often with lateral bowing of femora, short stature, and mild mental retardation.[ncbi.nlm.nih.gov]
  • Radiological examination is characteristic (anterior bowing of tibiae and fibulae, with cortical hyperostosis on the concave side of the curvature, slight bowing of the radius, ulna and humerus).[accessanesthesiology.mhmedical.com]
Saber Shin
  • Saber shin Saber shin is a malformation of the tibia. It presents as a sharp anterior bowing, or convexity, of the tibia. Weissmann Weißmann (Weissmann, Weiszmann, Waismann) is a German surname meaning "white man".[howlingpixel.com]
  • Features include anterior bowing of tibiae (saber shins) and lateral bowing of femora (usually bilateral), occasional mild bowing of ulna, radius, and humerus, and delayed ambulation in childhood.[accessanesthesiology.mhmedical.com]
  • Along with the characteristic bowing of the tibia and fibula, affected individuals may also exhibit bowing of the sides (lateral bowing) of the thigh bones (femur) and/or outward curvature of the tibia (saber shins).[rarediseases.org]
Lower Extremity Shortness
  • Keywords Public Health Differential Diagnosis Lower Extremity Short Stature Cortical Thickening These keywords were added by machine and not by the authors.[link.springer.com]
  • All rights reserved Tripathi et al / Weismann-Netter-Stuhl Syndrome Table-1 Clinical and Radiological features of Weismann Netter Stuhl Syndrome Clinical features Present Case 14yrs/F Francis et al11 4yrs/M Roninow et al3 8yrs/M Bowed lower extremity[mafiadoc.com]
Language Delays
  • delay - - - - - Hyperphosphatasemia - - - - /- /- - - - - - - - - - - - - Squared pelvis - - - - - Bowed femora - - - - - - Normal skull Bowed radii ulni - - - - Bowed humori - - - - Exaggerated trabeculation - - - - Thin posterior ribs - - - - - Coxa[mafiadoc.com]

Treatment

  • In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the tibial bowing.[doi.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the tibial bowing.[docksci.com]

Prognosis

  • Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]

Etiology

  • There is no unanimity of opinion as regards the etiology of the condition.[jamanetwork.com]
  • The etiology of juveni le-onset famil ial nephrot ic syndrome is unknown.[dokumen.tips]
  • Its precise pathophysiology or etiology remains unclear.[biomedsearch.com]
  • That variability could represent either the presence of differing etiologic subtypes within a single diagnostic label or the presence of additional, co-occurring illnesses for persons who share a single primary clinical diagnosis, which is common in clinical[journals.plos.org]
  • Hirsutism: implications, etiology, and management. Am J Obstet Gynecol. 1981 ; 140 ( 7 ): 815 – 830. 21. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2012 ; 35 ( Suppl 1 ): S64 – S71. 22.[academic.oup.com]

Epidemiology

  • Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

Prevention

  • The radiographic findings are quite specific and allow easy differentiation of this entity from other disease states: knowledge of this syndrome by the radiologist should prevent unnecessary diagnostic evaluation by the clinician.[ajronline.org]
  • Several factors including the small number of people identified with this disorder, the lack of large clinical studies, and the underlying cause of the disorder being unknown prevent physicians from developing a complete picture of associated symptoms[rarediseases.org]
  • Prevention - Bowing of legs- anterior- with dwarfism Not supplied. Diagnosis - Bowing of legs- anterior- with dwarfism Not supplied. Prognosis - Bowing of legs- anterior- with dwarfism Not supplied.[checkorphan.org]

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