title: Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome.
abstract: OBJECTIVE
  Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology.
  
  
  METHODS
  We report a sporadic case of a 2-year-old male child who presented with radiological features that were compatible with Weismann-Netter-Stuhl syndrome. In addition, we observed craniovertebral malformation complex. He was of normal intelligence. To our knowledge, the combination of Weismann-Netter-Stuhl syndrome and presence of a hypoplastic occipitalized atlas and further C2-C3 fusion has not been reported before. The diagnosis of Weismann-Netter-Stuhl is discussed. Classically, Weismann-Netter-Stuhl syndrome is characterized by short stature, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae. However, we believe that careful clinical and radiological examinations can reveal more striking data which might positively reflect on the whole process of management.
  
  
  CONCLUSIONS
  We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. Therefore, if this form of malformation is disregarded, there may be involvement of the atlantoaxial structure, and this can possibly lead to serious neurological and even life-threatening complications. The use of CT scanning for the detection of such abnormalities can be remarkably important.
authors.affiliation: Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Vienna, Austria. ali.alkaissi@osteologie.at
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Farid
authors.initials: F
authors.lastname: Ben Chehida
authors.forename: Hassan
authors.initials: H
authors.lastname: Gharbi
authors.forename: Mourad
authors.initials: M
authors.lastname: Jinziri
authors.forename: Hatem
authors.initials: H
authors.lastname: Safi
authors.forename: Maher
authors.initials: M
authors.lastname: Ben Ghachem
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.forename: Franz
authors.initials: F
authors.lastname: Varga
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000209:etiology; D001268:Atlanto-Axial Joint / Q000002:abnormalities*; D002675:Child, Preschool; D005360:Fibula / Q000002:abnormalities; D006801:Humans; D007870:Leg Length Inequality / Q000000981:diagnostic imaging* / Q000209:etiology; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014808:Vitamin D Deficiency / Q000150:complications