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      Weismann-Netter-Stuhl Syndrome:A family report

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          Abstract

          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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          [A case of Weismann-Netter and Stuhl syndrome ("toxopachyostéose diaphysairc tibio-péronière (author's transl)].

          G Leone (1981)
          A sporadic case of Weismann-Netter and Stuhl syndrome with typical bilateral leg changes, marked kyphoscoliosis anc costal deformity, iliac wings very expanded and horizontal sacrum, dolichophalangy in the hands is described. To explain the pathogenesis of tibial and fibular changes, a coexistence of exaggerated developmental external rotation of distal end of the tibia with a mechanism of functional adaptation is supposed.
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            A familial syndrome of diaphyseal cortical thickening of the long bones, bowed legs, tendency to fracture and icthyosis.

            K Maurseth, D Aarskog, B Haneberg … (1979)
            The clinical and radiological features of a dominant bone disorder found in six members of the same family are described. The bone disorder was mainly characterized by endosteal cortical thickening of long tubular bones and bowing of the weight-bearing ones. The clinical symptoms were waddling gait, muscle weakness and leg pains, and there was a tendency to fractures. All affected individuals had icthyosis of slight or moderate degree.
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              [A case of Weismann-Netter and Stuhl toxopachyosteosis with new bone sites].

              Andrea Vincent, S Hary, E Houvenagel (1991)
              A case of Weismann-Netter-Stuhl toxopachyosteosis in a 63-year-old man is reported. Bone deformities had been present since the age of 18 months. Tibio-fibular dysmorphism was severe. Radiological evaluation revealed other lesions encountered more rarely: bilateral femoral incurvature and exostoses, bilateral coxa vara, radio-ulnar incurvature and flattening of the last ribs. Two other previously undescribed lesions were seen in this patient; bradymetacarpism of the last four rays of the left hand and dysmorphic lengthening of the left patella. This case illustrates the widespread nature and unusual extent of bone lesions in the context of toxopachyosteosis.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Clin Res Pediatr Endocrinol
                Journal ID (iso-abbrev): J Clin Res Pediatr Endocrinol
                Journal ID (publisher-id): JCRPE
                Title: Journal of Clinical Research in Pediatric Endocrinology
                Publisher: Galenos Publishing
                ISSN (Print): 1308-5727
                ISSN (Electronic): 1308-5735
                Publication date (Print): June 2009
                Publication date (Electronic): 8 December 2010
                Volume: 1
                Issue: 4
                Pages: 194-196
                Affiliations
                [1 ] Department of Pediatrics, Selcuk University, Meram Medical Faculty, Konya
                [2 ] Department of Pediatric Endocrinology, Selcuk University, Meram Medical Faculty, Konya
                [3 ] Department of Pediatric Endocrinology, Konya Research and Training Hospital, Konya
                +90-332-223 63 10+90-332-223 61 82 drhayrullahalp@ 123456hotmail.com Selcuk University, Meram Medical Faculty, Department of Pediatrics Beysehir Yolu 42080-Konya, Turkey
                Article
                Publisher Item ID: 28
                DOI: 10.4008/jcrpe.v1i4.45
                PMC ID: 3005653
                PubMed ID: 21274295
                SO-VID: 92417bed-bc34-417d-b7a2-4376f05111dd
                Copyright © © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 15 December 2008
                Date accepted : 8 April 2009
                Categories
                Subject: Case Reports

                ScienceOpen disciplines: Pediatrics
                Keywords: femur involvement,weismann-netter-stuhl syndrome,radiography,weismann−netter−stuhl syndrome
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: femur involvement, weismann-netter-stuhl syndrome, radiography, weismann−netter−stuhl syndrome

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