Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia,kyphomelic dysplasia, and Burton disease

Follow-up and re-evaluation of four patients originally described as exampl es of severe infantile "micromelic chondrodysplasia" resembling Kniest dise ase, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the d iagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in al l of them, SJS may be suspected in neonates with Kniest-like chondrodysplas ia, congenital bowing of shortened femora and tibiae, and facial manifestat ions consisting of a small mouth, micrognathia, and possibly pursed lips. T he disorder must be differentiated from the Stuve-Wiedemann syndrome, a gen etically distinct myotonic chondrodysplasia with similar clinical but diffe rent skeletal changes and an unfavorable early prognosis. The demise of "ky phomelic dysplasia" as a nosological entity reemphasizes the symptomatic na ture of congenital bowing of the long bones. Am. J. Med. Genet. 94:287-295, 2000. (C) 2000 Wiley-Liss, Inc.