Identification and classification of tibioperoneal diaphyseal toxopachyosteosis (Weismann-Netter-Stuhl syndrome): based on two new cases and a review of the literature

Nores, J. M.; Monsegu, M H; Masfrand, V de; Oberlin, F.; Denormandie, P.; Rémy, J

doi:10.1016/s0720-048x(96)01023-6

Cited by 9 publications

(10 citation statements)

References 9 publications

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“…Most of the reported cases, particularly in adult patients, have been published in French. 5 Case reports of WNS in children are rare and its diagnosis is usually delayed in this age group. 3, 9 The reareason for this delay may be due to unclear clinical symptoms and unfamiliar radiological appearance of the syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…The involvement is frequently bilateral, and symmetrical. 2, 3, 4, 5, 6 Unilateral involvement is very rare 5. Bowing of tibiae and fibulae is apparent at antero-posterior position on roentgenograms.…”

Section: Discussionmentioning

confidence: 99%

“…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, 6, 7, 8 In this article we report an infant diagnosed with WNS syndrome. Clinical and radiographic findings suggestive of the syndrome were identified in three other family members.…”

Section: Introductionmentioning

confidence: 92%

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Weismann-Netter-Stuhl Syndrome:A family report - Case Report

Alp¹,

Atabek²,

Pirgon³

2009

Jcrpe

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Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members.Conflict of interest:None declared.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 92%

See 1 more Smart Citation

Weismann-Netter-Stuhl Syndrome:A family report - Case Report

Alp¹,

Atabek²,

Pirgon³

2009

Jcrpe

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“…While rickets involves mainly the metaphyseal region of the bone, the bowing in congenital syphilis usually shows bowing at mid-tibial level with the thickening of the cortex having a uniform symmetry 5. Patients with rickets also usually have a history of vitamin D deficiency in childhood, with resulting thoracic and epiphyseal lesions 2. Blount disease clearly lacks a history of illness, generalised involvement of the skeleton, multiple deformities and terminal short stature in comparison with the other differentials 7…”

Section: Differential Diagnosismentioning

confidence: 99%

“…With most cases having bilateral involvement,2–4 short stature and tibialisation of fibula are also commonly seen 5 6. Majority of the literature on the syndrome exists in the form of case reports and series,1 2 4 5 with most of them failing to address the appropriate treatment guidelines in correcting the deformity. We present two cases with this syndrome who responded well to fixation using an intramedullary tibial nail after one-level/two-level osteotomy of the tibia and fibula along with bone grafting.…”

Section: Introductionmentioning

confidence: 99%

Weismann-Netter-Stuhl syndrome: report of two cases and treatment

Gupta

Mittal

et al. 2014

BMJ Case Reports

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Weismann‐Netter syndrome and mental retardation: A new patient and review of the literature

Peippo

Valanne

Perhomaa

et al. 2009

American J of Med Genetics Pt A

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In 1954, Weismann-Netter and Stuhl described three sporadic adults and a mother and her three children with short stature and congenital anterior bowing of lower legs [Weismann-Netter and Stuhl (1954); Presse Méd 62:1618-1622]. 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. Nearly all have been case reports in French medical literature, and the first report in the Anglo-American literature appeared in 1988. Only a minority of the publications have appeared during the past two decades. The diagnostic findings of WNS are anterior bowing of the diaphyses of tibia and fibula, broadening or "tibialization" of the fibula and posterior cortical thickening of the two bones. Also the diaphyses of other long bones may be similarly affected but usually to a milder degree. The cause of the condition is unknown, but frequent familial cases suggest a genetic defect with autosomal dominant inheritance. Several of the WNS patients have also had mental retardation (MR), but the existence of a WNS-MR syndrome is still pending. We describe a sporadic patient with typical WNS skeletal findings and MR. He also had postnatal growth deceleration with partially corrective pubertal growth, normal head size and normal brain structures on MRI. We review the WNS literature.

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Identification and classification of tibioperoneal diaphyseal toxopachyosteosis (Weismann-Netter-Stuhl syndrome): based on two new cases and a review of the literature

Cited by 9 publications

References 9 publications

Weismann-Netter-Stuhl Syndrome:A family report - Case Report

Weismann-Netter-Stuhl Syndrome:A family report - Case Report

Weismann-Netter-Stuhl syndrome: report of two cases and treatment

Weismann‐Netter syndrome and mental retardation: A new patient and review of the literature

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