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, asignificant number of affected children can be misdiagnosed and improperly managed. This case illustrates how thecareful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology.Description: We report a sporadic case of a 2-year-old male child who presented with radiological features thatwere compatible with Weismann-Netter-Stuhl syndrome. In addition, we observed craniovertebral malformationcomplex. He was of normal intelligence. To our knowledge, the combination of Weismann-Netter-Stuhl syndromeand presence of a hypoplastic occipitalized atlas and further C2-C3 fusion has not been reported before. Thediagnosis of Weismann-Netter-Stuhl is discussed. Classically, Weismann-Netter-Stuhl syndrome is characterized byshort 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 mightpositively reflect on the whole process of management.Comments: We postulate that the congenital limitations in neck movements in our patient developed becauseof the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. Therefore, if this formof malformation is disregarded, there may be involvement of the atlantoaxial structure, and this can possibly leadto serious neurological and even life-threatening complications. The use of CT scanning for the detection of suchabnormalities can be remarkably important.J Pediatr (Rio J). 2006;82(3):236-9: Weismann-Netter-Stuhl syndrome, bowing of the tibiae and fibulae,hypoplasia of the anterior arch of the atlas, occipitalization of the atlas.