Spondyloenchondrodysplasia: several phenotypes--the same syndrome.
We present details of a dwarfing skeletal dysplasia in two boys. Radiographs show multiple enchondromas of tubular and flat bones together with abnormalities of the spinal column. Clinical, laboratory and radiological findings enable this entity to be grouped within the spectrum of enchondromatoses with vertebral changes. A literature review suggests heterogeneity of this group of conditions.
Uhlmann
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2nd Department of Surgery, University of Leipzig, Liebigstrasse 20 a, D-04 103 Leipzig, Germany.
Rupprecht
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Keller
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Hörmann
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D
D000293:Adolescent; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004687:Enchondromatosis / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D010641:Phenotype; D011859:Radiography